ONTOLOGY REPORT - ANNOTATIONS
| Term: | Eye Diseases |
|
| Accession: | RDO:0001023
|
browse the term
|
| Definition: | Diseases affecting the eye. |
| Synonyms: | exact_synonym: | Eye Disease |
| | primary_id: | MESH:D005128 |
|
|
Achromatopsia 2
|
| G |
Cnga3 |
cyclic nucleotide gated channel alpha 3 |
|
|
ISS |
9 |
36,180,295 |
36,203,098 |
RGD:7240710 |
OMIM |
Achromatopsia 3
|
| G |
Cngb3 |
cyclic nucleotide gated channel beta 3 |
|
|
ISS |
5 |
33,867,639 |
34,136,940 |
RGD:7240710 |
OMIM |
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY
|
| G |
Atic |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
|
|
ISS |
9 |
70,676,744 |
70,696,865 |
RGD:7240710 |
OMIM |
Aland Island Eye Disease
|
| G |
Cacna1f |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
|
|
ISS |
X |
26,908,850 |
26,937,165 |
RGD:7240710 |
OMIM |
Albinism ocular late onset sensorineural deafness
|
| G |
Mitf |
microphthalmia-associated transcription factor |
|
|
ISS |
4 |
132,534,187 |
132,745,669 |
RGD:7240710 |
OMIM |
| G |
Tyr |
tyrosinase |
|
|
ISS |
1 |
143,641,257 |
143,746,315 |
RGD:7240710 |
OMIM |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
| G |
Hps1 |
Hermansky-Pudlak syndrome 1 homolog (human) |
|
|
ISS |
1 |
248,109,643 |
248,134,450 |
RGD:7240710 |
OMIM |
Albinism, Ocular
|
| G |
Tyr |
tyrosinase |
|
|
ISS |
1 |
143,641,257 |
143,746,315 |
RGD:7240710 |
OMIM |
Albinism, Oculocutaneous
|
| G |
Slc45a2 |
solute carrier family 45, member 2 |
|
|
ISS |
2 |
60,349,773 |
60,383,838 |
RGD:1599921 |
RGD |
| G |
Tyr |
tyrosinase |
|
|
IAGP |
1 |
143,641,257 |
143,746,315 |
RGD:1599687 |
RGD |
| G |
Tyr |
tyrosinase |
|
|
ISS |
1 |
143,641,257 |
143,746,315 |
RGD:1599686 |
RGD |
| G |
Tyrp1 |
tyrosinase-related protein 1 |
|
|
ISS |
5 |
99,518,306 |
99,537,289 |
RGD:1599692 |
RGD |
Alpha-B Crystallinopathy
|
| G |
Cryab |
crystallin, alpha B |
|
|
ISS |
8 |
54,107,824 |
54,111,502 |
RGD:7240710 |
OMIM |
Alstrom Syndrome
|
| G |
Alms1 |
Alstrom syndrome 1 |
|
|
ISS |
4 |
119,846,037 |
119,946,085 |
RGD:7240710 |
OMIM |
Amaurosis congenita of Leber, type 1
|
| G |
Gucy2d |
guanylate cyclase 2D, membrane (retina-specific) |
|
|
ISS |
10 |
56,012,236 |
56,027,290 |
RGD:7240710 |
OMIM |
Amaurosis congenita of Leber, type 2
|
| G |
Rpe65 |
retinal pigment epithelium 65 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Amaurosis congenita of Leber, type 5
|
| G |
Lca5 |
Leber congenital amaurosis 5 |
|
|
ISS |
8 |
88,464,748 |
88,522,568 |
RGD:7240710 |
OMIM |
Amaurosis Fugax
|
| G |
Mmp1 |
matrix metallopeptidase 1 (interstitial collagenase) |
|
|
ISS |
8 |
4,333,773 |
4,354,284 |
RGD:1582361 |
RGD |
Aniridia
|
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:1601209 |
RGD |
Aniridia cerebellar ataxia mental deficiency
|
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:7240710 |
OMIM |
Aniridia, type 2
|
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:7240710 |
OMIM |
Anophthalmos
|
| S |
MSUBL |
|
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
Aphakia
|
| G |
Foxe3 |
forkhead box E3 |
|
|
ISS |
5 |
135,285,688 |
135,286,548 |
RGD:1598956 |
RGD |
| G |
Pitx3 |
paired-like homeodomain 3 |
|
|
ISS |
1 |
251,355,785 |
251,368,502 |
RGD:737764 |
RGD |
Aphakia, congenital primary
|
| G |
Foxe3 |
forkhead box E3 |
|
|
ISS |
5 |
135,285,688 |
135,286,548 |
RGD:7240710 |
OMIM |
Aplasia of Lacrimal and Salivary Glands
|
| G |
Fgf10 |
fibroblast growth factor 10 |
|
|
ISS |
2 |
50,866,799 |
50,940,319 |
RGD:7240710 |
OMIM |
Arcus Senilis
|
| G |
Kera |
keratocan |
|
|
ISS |
7 |
35,121,875 |
35,129,326 |
RGD:1600335 |
RGD |
Arts syndrome
|
| G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
|
ISS |
X |
128,249,843 |
128,271,893 |
RGD:7240710 |
OMIM |
Athabaskan brainstem dysgenesis
|
| G |
Hoxa1 |
homeo box A1 |
|
|
ISS |
4 |
80,456,728 |
80,458,388 |
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 |
Axenfeld-Rieger Syndrome, Type 3
|
| G |
Foxc1 |
forkhead box C1 |
|
|
ISS |
17 |
39,026,186 |
39,030,163 |
RGD:7240710 |
OMIM |
Basal Laminar Drusen
|
| G |
Cfh |
complement factor H |
|
|
ISS |
13 |
53,252,249 |
53,355,987 |
RGD:7240710 |
OMIM |
Behcet Syndrome
|
| G |
Ccr5 |
chemokine (C-C motif) receptor 5 |
|
|
ISS |
8 |
128,907,157 |
128,912,272 |
RGD:4892106 |
RGD |
| G |
Cpb2 |
carboxypeptidase B2 (plasma) |
|
|
ISS |
15 |
56,104,920 |
56,154,321 |
RGD:1598474 |
RGD |
| G |
Fcgr3a |
Fc fragment of IgG, low affinity IIIa, receptor |
|
Susceptibility |
ISS |
13 |
86,867,641 |
86,877,665 |
RGD:5508432 |
RGD |
| G |
Il10 |
interleukin 10 |
|
Disease_progression |
ISS |
13 |
43,953,900 |
43,957,766 |
RGD:1598628 |
RGD |
| G |
Il18 |
interleukin 18 |
|
|
ISS |
8 |
53,936,584 |
53,943,228 |
RGD:4889844 |
RGD |
| G |
Il2 |
interleukin 2 |
|
|
ISS |
2 |
123,655,005 |
123,659,709 |
RGD:5147902 |
RGD |
| G |
Il21r |
interleukin 21 receptor |
|
|
ISS |
1 |
184,665,737 |
184,693,583 |
RGD:6892926 |
RGD |
| G |
Il4 |
interleukin 4 |
|
|
ISS |
10 |
39,074,582 |
39,080,134 |
RGD:5147902 |
RGD |
| G |
Itga2 |
integrin, alpha 2 |
|
Susceptibility |
ISS |
2 |
46,967,681 |
47,080,909 |
RGD:1582300 |
RGD |
| G |
Mbl2 |
mannose-binding lectin (protein C) 2 |
|
Susceptibility |
ISS |
1 |
233,978,931 |
233,983,824 |
RGD:1582154 |
RGD |
| G |
Mbl2 |
mannose-binding lectin (protein C) 2 |
|
Severity |
ISS |
1 |
233,978,931 |
233,983,824 |
RGD:1582155 |
RGD |
| G |
Proz |
protein Z, vitamin K-dependent plasma glycoprotein |
|
|
ISS |
16 |
81,311,405 |
81,321,986 |
RGD:1580692 |
RGD |
| G |
RT1-DMa |
RT1 class II, locus DMa |
|
No_Association |
ISS |
20 |
4,843,458 |
4,846,861 |
RGD:1582700 |
RGD |
| G |
RT1-DMb |
RT1 class II, locus DMb |
|
No_Association |
ISS |
20 |
4,829,535 |
4,836,772 |
RGD:1582700 |
RGD |
| G |
Slc11a1 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 |
|
|
ISS |
9 |
73,714,692 |
73,725,523 |
RGD:5684936 |
RGD |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
ISS |
11 |
29,810,766 |
29,816,342 |
RGD:1580846 |
RGD |
| G |
Stat3 |
signal transducer and activator of transcription 3 (acute-phase response factor) |
|
|
ISS |
10 |
89,821,078 |
89,872,970 |
RGD:6483021 |
RGD |
| G |
Tgfb1 |
transforming growth factor, beta 1 |
|
|
ISS |
1 |
80,894,705 |
80,911,020 |
RGD:5147902 |
RGD |
| G |
Vim |
vimentin |
|
|
ISS |
17 |
87,847,280 |
87,855,763 |
RGD:6480476 |
RGD |
| G |
Vwf |
von Willebrand factor |
|
|
ISS |
4 |
161,723,415 |
161,854,766 |
RGD:1580642 |
RGD |
Benign essential blepharospasm
|
| G |
Drd5 |
dopamine receptor D5 |
|
|
ISS |
14 |
77,768,060 |
77,769,487 |
RGD:7240710 |
OMIM |
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
| G |
Best1 |
bestrophin 1 |
|
|
ISS |
1 |
212,432,811 |
212,449,374 |
RGD:7240710 |
OMIM |
Bietti's crystalline dystrophy
|
| G |
Cyp4v3 |
cytochrome P450, family 4, subfamily v, polypeptide 3 |
|
|
ISS |
16 |
50,208,687 |
50,233,625 |
RGD:7240710 |
OMIM |
Birdshot chorioretinopathy
|
| G |
Il2 |
interleukin 2 |
|
|
ISS |
2 |
123,655,005 |
123,659,709 |
RGD:5147908 |
RGD |
Blepharophimosis
|
| G |
Foxl2 |
forkhead box L2 |
|
|
ISS |
8 |
103,804,019 |
103,805,239 |
RGD:1598958 |
RGD |
Blepharophimosis syndrome type 1
|
| G |
Foxl2 |
forkhead box L2 |
|
|
ISS |
8 |
103,804,019 |
103,805,239 |
RGD:7240710 |
OMIM |
Blepharophimosis, Ptosis, and Epicanthus Inversus
|
| G |
Foxl2 |
forkhead box L2 |
|
|
ISS |
8 |
103,804,019 |
103,805,239 |
RGD:7240710 |
OMIM |
Blepharoptosis
|
| G |
Foxc2 |
forkhead box C2 |
|
|
ISS |
|
|
|
RGD:1601216 |
RGD |
Blepharospasm
|
| G |
Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
|
|
ISS |
10 |
95,361,338 |
95,381,455 |
RGD:1300340 |
RGD |
| G |
Drd5 |
dopamine receptor D5 |
|
|
ISS |
14 |
77,768,060 |
77,769,487 |
RGD:734899 |
RGD |
| G |
Drd5 |
dopamine receptor D5 |
|
|
ISS |
14 |
77,768,060 |
77,769,487 |
RGD:7240710 |
OMIM |
Blindness
|
| G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
Susceptibility |
ISS |
10 |
58,879,846 |
58,913,985 |
RGD:1599003 |
RGD |
| G |
Clcn3 |
chloride channel, voltage-sensitive 3 |
|
|
ISS |
16 |
32,447,259 |
32,518,533 |
RGD:734783 |
RGD |
| G |
Crb1 |
crumbs homolog 1 (Drosophila) |
|
|
ISS |
13 |
52,558,317 |
52,725,099 |
RGD:7240710 |
OMIM |
| G |
Rpe65 |
retinal pigment epithelium 65 |
|
|
ISS |
|
|
|
RGD:737730 |
RGD |
| G |
Vsx2 |
visual system homeobox 2 |
|
Susceptibility |
ISS |
6 |
108,638,063 |
108,660,830 |
RGD:734779 |
RGD |
Blue cone monochromatism
|
| G |
Opn1mw |
opsin 1 (cone pigments), medium-wave-sensitive |
|
|
ISS |
X |
160,095,742 |
160,115,966 |
RGD:7240710 |
OMIM |
Bothnia Retinal Dystrophy
|
| G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
|
ISS |
1 |
135,122,063 |
135,135,420 |
RGD:7240710 |
OMIM |
Brain Small Vessel Disease with Hemorrhage
|
| G |
Col4a1 |
collagen, type IV, alpha 1 |
|
|
ISS |
16 |
83,045,183 |
83,157,835 |
RGD:7240710 |
OMIM |
Cataract
|
| G |
Akr1b1 |
aldo-keto reductase family 1, member B1 (aldose reductase) |
|
|
IED |
4 |
61,645,438 |
61,659,530 |
RGD:1626083 |
RGD |
| G |
Aqp9 |
aquaporin 9 |
|
|
ISS |
8 |
75,611,485 |
75,651,646 |
RGD:7240710 |
OMIM |
| G |
B2m |
beta-2 microglobulin |
|
|
ISS |
3 |
108,927,919 |
108,932,718 |
RGD:2311237 |
RGD |
| G |
Brca2 |
breast cancer 2, early onset |
|
|
IAGP |
12 |
4,282,952 |
4,323,693 |
RGD:1599505 |
RGD |
| G |
Cck |
cholecystokinin |
|
|
IED |
8 |
126,492,636 |
126,499,220 |
RGD:2313636 |
RGD |
| G |
Cryaa |
crystallin, alpha A |
|
|
IED |
|
|
|
RGD:1600984 |
RGD |
| G |
Cryaa |
crystallin, alpha A |
|
|
IEP |
|
|
|
RGD:1600993 |
RGD |
| G |
Cryaa |
crystallin, alpha A |
|
|
ISS |
|
|
|
RGD:704405 |
RGD |
| G |
Cryaa |
crystallin, alpha A |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Cryab |
crystallin, alpha B |
|
|
ISS |
8 |
54,107,824 |
54,111,502 |
RGD:704404 |
RGD |
| G |
Cryab |
crystallin, alpha B |
|
|
ISS |
8 |
54,107,824 |
54,111,502 |
RGD:7240710 |
OMIM |
| G |
Cryba1 |
crystallin, beta A1 |
|
|
ISS |
10 |
63,758,929 |
63,765,451 |
RGD:704405 |
RGD |
| G |
Cryba4 |
crystallin, beta A4 |
|
|
IEP |
|
|
|
RGD:2303653 |
RGD |
| G |
Crybb1 |
crystallin, beta B1 |
|
|
ISS |
|
|
|
RGD:728217 |
RGD |
| G |
Crybb1 |
crystallin, beta B1 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Crybb2 |
crystallin, beta B2 |
|
Susceptibility |
ISS |
|
|
|
RGD:1601011 |
RGD |
| G |
Crybb2 |
crystallin, beta B2 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Crygc |
crystallin, gamma C |
|
Susceptibility |
ISS |
9 |
63,720,585 |
63,722,620 |
RGD:1601015 |
RGD |
| G |
Crygc |
crystallin, gamma C |
|
|
ISS |
9 |
63,720,585 |
63,722,620 |
RGD:7240710 |
OMIM |
| G |
Crygd |
crystallin, gamma D |
|
Susceptibility |
ISS |
9 |
63,711,051 |
63,712,662 |
RGD:1601016 |
RGD |
| G |
Crygd |
crystallin, gamma D |
|
|
TAS |
9 |
63,711,051 |
63,712,662 |
RGD:1298817 |
RGD |
| G |
Crygd |
crystallin, gamma D |
|
|
ISS |
9 |
63,711,051 |
63,712,662 |
RGD:7240710 |
OMIM |
| G |
Crygs |
crystallin, gamma S |
|
|
ISS |
11 |
80,417,632 |
80,437,802 |
RGD:7240710 |
OMIM |
| G |
Cth |
cystathionase (cystathionine gamma-lyase) |
|
|
IED |
2 |
256,056,562 |
256,082,248 |
RGD:1600763 |
RGD |
| G |
Fas |
Fas cell surface death receptor |
|
|
ISS |
1 |
238,259,443 |
238,274,745 |
RGD:2315757 |
RGD |
| G |
Fdft1 |
farnesyl diphosphate farnesyl transferase 1 |
|
|
IAGP |
15 |
42,425,336 |
42,453,390 |
RGD:1626611 |
RGD |
| G |
Ftl |
ferritin, light polypeptide |
|
|
ISS |
1 |
95,929,248 |
95,931,092 |
RGD:1598966 |
RGD |
| G |
Galk1 |
galactokinase 1 |
|
|
ISS |
10 |
106,116,774 |
106,120,951 |
RGD:1300192 |
RGD |
| G |
Gcnt2 |
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme |
|
|
ISS |
17 |
29,767,383 |
29,808,950 |
RGD:704404 |
RGD |
| G |
Gja3 |
gap junction protein, alpha 3 |
|
|
IAGP |
15 |
36,052,554 |
36,078,001 |
RGD:1599824 |
RGD |
| G |
Gja3 |
gap junction protein, alpha 3 |
|
|
ISS |
15 |
36,052,554 |
36,078,001 |
RGD:1578473 |
RGD |
| G |
Gja8 |
gap junction membrane channel protein alpha 8 |
|
|
IAGP |
|
|
|
RGD:629571 |
RGD |
| G |
Gsr |
glutathione reductase |
|
|
ISS |
16 |
62,255,562 |
62,298,458 |
RGD:1600697 |
RGD |
| G |
Hsf4 |
heat shock transcription factor 4 |
|
|
ISS |
19 |
35,085,532 |
35,091,256 |
RGD:1599774 |
RGD |
| G |
Lim2 |
lens intrinsic membrane protein 2 |
|
Onset |
ISS |
1 |
93,805,817 |
93,811,981 |
RGD:1600309 |
RGD |
| G |
Lim2 |
lens intrinsic membrane protein 2 |
|
|
ISS |
1 |
93,805,817 |
93,811,981 |
RGD:7240710 |
OMIM |
| G |
Maf |
v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) |
|
|
ISS |
19 |
45,859,510 |
45,861,454 |
RGD:1547888 |
RGD |
| G |
Mip |
major intrinsic protein of lens fiber |
|
|
ISS |
7 |
1,509,023 |
1,516,275 |
RGD:1599936 |
RGD |
| G |
Mip |
major intrinsic protein of lens fiber |
|
|
ISS |
7 |
1,509,023 |
1,516,275 |
RGD:7240710 |
OMIM |
| G |
Nfe2l2 |
nuclear factor, erythroid derived 2, like 2 |
|
Disease_progression |
ISS |
3 |
58,366,693 |
58,394,116 |
RGD:6893326 |
RGD |
| G |
Nhs |
Nance-Horan syndrome (congenital cataracts and dental anomalies) |
|
|
ISS |
X |
53,321,827 |
53,720,326 |
RGD:1598795 |
RGD |
| G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
|
IPM |
18 |
32,371,496 |
32,459,145 |
RGD:4892118 |
RGD |
| G |
Opa3 |
optic atrophy 3 |
|
|
ISS |
1 |
78,592,874 |
78,611,029 |
RGD:704404 |
RGD |
| G |
Pitx3 |
paired-like homeodomain 3 |
|
|
ISS |
1 |
251,355,785 |
251,368,502 |
RGD:7240710 |
OMIM |
| G |
Slc2a3 |
solute carrier family 2 (facilitated glucose transporter), member 3 |
|
|
IEP |
4 |
159,210,116 |
159,221,169 |
RGD:2313618 |
RGD |
| G |
Slc9a1 |
solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 |
|
|
IPM |
5 |
151,680,696 |
151,748,460 |
RGD:6771325 |
RGD |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
ISS |
11 |
29,810,766 |
29,816,342 |
RGD:1581192 |
RGD |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
ISS |
11 |
29,810,766 |
29,816,342 |
RGD:2312362 |
RGD |
| G |
Vim |
vimentin |
|
|
ISS |
17 |
87,847,280 |
87,855,763 |
RGD:7240710 |
OMIM |
| S |
F344/NHok |
|
|
|
TAS |
|
|
|
RGD:69668 |
RGD |
| S |
IER/Ihr |
|
|
|
QTM |
|
|
|
RGD:68701 |
RGD |
| S |
PETH/N |
Royal College of Surgeons, RCS |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
| S |
RCS-p+/LavRrrc |
|
|
|
IED |
|
|
|
RGD:632096 |
RGD |
| S |
SDT/CrljJcl |
|
|
|
TAS |
|
|
|
RGD:628479 |
RGD |
| S |
SHR-Gja8m1Cub |
|
|
|
IED |
|
|
|
RGD:2293186 |
RGD |
| S |
UPL/Cas |
Upjohn Pharmaceuticals Limited |
|
|
TAS |
|
|
|
RGD:727242 |
RGD |
| S |
UPL/Ncc |
|
|
|
TAS |
|
|
|
RGD:629571 |
RGD |
Cataract, Autosomal Dominant
|
| G |
Cryaa |
crystallin, alpha A |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Cataract, autosomal recessive congenital 2
|
| G |
Fyco1 |
FYVE and coiled-coil domain containing 1 |
|
|
ISS |
8 |
128,543,895 |
128,612,184 |
RGD:7240710 |
OMIM |
Cataract, Congenital Nuclear, Autosomal Recessive 2
|
| G |
Crybb3 |
crystallin, beta B3 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Cataract, Congenital Nuclear, Autosomal Recessive 3
|
| G |
Crybb1 |
crystallin, beta B1 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Cataract, Congenital Zonular, with Sutural Opacities
|
| G |
Cryba1 |
crystallin, beta A1 |
|
|
ISS |
10 |
63,758,929 |
63,765,451 |
RGD:7240710 |
OMIM |
Cataract, Congenital, Cerulean Type, 2
|
| G |
Crybb2 |
crystallin, beta B2 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Cataract, Coppock-Like
|
| G |
Crybb2 |
crystallin, beta B2 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Crygc |
crystallin, gamma C |
|
|
ISS |
9 |
63,720,585 |
63,722,620 |
RGD:7240710 |
OMIM |
Cataract, Cortical, Juvenile-Onset
|
| G |
Bfsp1 |
beaded filament structural protein 1, filensin |
|
|
ISS |
3 |
132,268,138 |
132,302,378 |
RGD:7240710 |
OMIM |
Cataract, Crystalline Aculeiform
|
| G |
Crygd |
crystallin, gamma D |
|
|
ISS |
9 |
63,711,051 |
63,712,662 |
RGD:7240710 |
OMIM |
Cataract, Juvenile, With Microcornea And Glucosuria
|
| G |
Slc16a12 |
solute carrier family 16, member 12 (monocarboxylic acid transporter 12) |
|
|
ISS |
1 |
238,643,040 |
238,665,699 |
RGD:7240710 |
OMIM |
Cataract, Lamellar 2
|
| G |
Cryba4 |
crystallin, beta A4 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Cataract, posterior polar, 3
|
| G |
Chmp4bl1 |
chromatin modifying protein 4B-like 1 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Cataract, posterior polar, 4
|
| G |
Pitx3 |
paired-like homeodomain 3 |
|
|
ISS |
1 |
251,355,785 |
251,368,502 |
RGD:7240710 |
OMIM |
Cataract, Pulverulent, Juvenile-Onset
|
| G |
Maf |
v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) |
|
|
ISS |
19 |
45,859,510 |
45,861,454 |
RGD:7240710 |
OMIM |
Cataract, zonular
|
| G |
Hsf4 |
heat shock transcription factor 4 |
|
|
ISS |
19 |
35,085,532 |
35,091,256 |
RGD:7240710 |
OMIM |
Cataract, Zonular Pulverulent 3
|
| G |
Gja3 |
gap junction protein, alpha 3 |
|
|
ISS |
15 |
36,052,554 |
36,078,001 |
RGD:7240710 |
OMIM |
Cerebrooculofacioskeletal Syndrome 2
|
| G |
Ercc2 |
excision repair cross-complementing rodent repair deficiency, complementation group 2 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Cerebrooculofacioskeletal Syndrome 4
|
| G |
Ercc1 |
excision repair cross-complementing rodent repair deficiency, complementation group 1 |
|
|
ISS |
1 |
78,711,249 |
78,722,474 |
RGD:7240710 |
OMIM |
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
|
| G |
Chd7 |
chromodomain helicase DNA binding protein 7 |
|
|
ISS |
5 |
22,549,237 |
22,710,257 |
RGD:7240710 |
OMIM |
| G |
Sema3e |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E |
|
|
ISS |
4 |
16,523,602 |
16,781,878 |
RGD:7240710 |
OMIM |
Choroidal dystrophy central areolar
|
| G |
Prph |
peripherin |
|
|
ISS |
7 |
137,836,152 |
137,839,931 |
RGD:7240710 |
OMIM |
| G |
Prph2 |
peripherin 2 |
|
|
ISS |
9 |
9,251,024 |
9,272,513 |
RGD:7240710 |
OMIM |
Choroidal Dystrophy, Central Areolar 2
|
| G |
Prph |
peripherin |
|
|
ISS |
7 |
137,836,152 |
137,839,931 |
RGD:7240710 |
OMIM |
| G |
Prph2 |
peripherin 2 |
|
|
ISS |
9 |
9,251,024 |
9,272,513 |
RGD:7240710 |
OMIM |
Choroidal Neovascularization
|
| G |
Aoc3 |
amine oxidase, copper containing 3 |
|
|
IPM |
10 |
90,357,094 |
90,365,040 |
RGD:2313908 |
RGD |
| G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
|
ISS |
8 |
128,759,943 |
128,769,341 |
RGD:6893454 |
RGD |
| G |
F7 |
coagulation factor VII (serum prothrombin conversion accelerator) |
|
|
IED |
16 |
81,348,678 |
81,358,991 |
RGD:2312299 |
RGD |
| G |
Icam1 |
intercellular adhesion molecule 1 |
|
|
IEP |
8 |
20,040,177 |
20,051,939 |
RGD:4145405 |
RGD |
| G |
Itgav |
integrin, alpha V |
|
|
IED |
3 |
66,953,403 |
67,029,774 |
RGD:1582458 |
RGD |
| G |
Serpinf1 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 |
|
|
IEP |
10 |
62,713,441 |
62,739,444 |
RGD:2312356 |
RGD |
| G |
Serpinf1 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 |
|
|
ISS |
10 |
62,713,441 |
62,739,444 |
RGD:1580135 |
RGD |
| G |
Tymp |
thymidine phosphorylase |
|
|
IEP |
7 |
127,666,518 |
127,671,624 |
RGD:2293727 |
RGD |
| G |
Vegfb |
vascular endothelial growth factor B |
|
|
ISS |
1 |
209,657,632 |
209,661,271 |
RGD:2314323 |
RGD |
Choroideremia
|
| G |
Chm |
choroideremia (Rab escort protein 1) |
|
|
ISS |
X |
101,753,857 |
101,927,941 |
RGD:704404 |
RGD |
| G |
Chm |
choroideremia (Rab escort protein 1) |
|
|
ISS |
X |
101,753,857 |
101,927,941 |
RGD:7240710 |
OMIM |
COACH syndrome
|
| G |
Rpgrip1l |
Rpgrip1-like |
|
|
ISS |
19 |
16,859,114 |
16,952,054 |
RGD:7240710 |
OMIM |
| G |
Tmem67 |
transmembrane protein 67 |
|
|
ISS |
5 |
26,324,625 |
26,377,531 |
RGD:7240710 |
OMIM |
Coloboma
|
| G |
Maf |
v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) |
|
|
ISS |
19 |
45,859,510 |
45,861,454 |
RGD:1547889 |
RGD |
| G |
Pax2 |
paired box 2 |
|
|
ISS |
1 |
249,804,055 |
249,895,306 |
RGD:704404 |
RGD |
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:7240710 |
OMIM |
| G |
Rbp4 |
retinol binding protein 4, plasma |
|
|
ISS |
1 |
242,443,795 |
242,450,997 |
RGD:7240710 |
OMIM |
Coloboma of optic nerve
|
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:7240710 |
OMIM |
Color Vision Defects
|
| G |
Cnga3 |
cyclic nucleotide gated channel alpha 3 |
|
|
ISS |
9 |
36,180,295 |
36,203,098 |
RGD:734792 |
RGD |
| G |
Cngb3 |
cyclic nucleotide gated channel beta 3 |
|
Susceptibility |
ISS |
5 |
33,867,639 |
34,136,940 |
RGD:1600870 |
RGD |
| G |
Gnat2 |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 |
|
|
ISS |
2 |
203,652,408 |
203,655,012 |
RGD:7240710 |
OMIM |
| G |
Gnat2 |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 |
|
|
ISS |
2 |
203,652,408 |
203,655,012 |
RGD:1599034 |
RGD |
| G |
Opn1mw |
opsin 1 (cone pigments), medium-wave-sensitive |
|
|
ISS |
X |
160,095,742 |
160,115,966 |
RGD:704404 |
RGD |
| G |
Opn1sw |
opsin 1 (cone pigments), short-wave-sensitive |
|
|
ISS |
4 |
56,256,846 |
56,259,986 |
RGD:704404 |
RGD |
COLORBLINDNESS, PARTIAL, DEUTAN SERIES
|
| G |
Opn1mw |
opsin 1 (cone pigments), medium-wave-sensitive |
|
|
ISS |
X |
160,095,742 |
160,115,966 |
RGD:7240710 |
OMIM |
Cone Dystrophy 3
|
| G |
Guca1a |
guanylate cyclase activator 1a (retina) |
|
|
ISS |
9 |
9,046,617 |
9,056,984 |
RGD:7240710 |
OMIM |
Cone Dystrophy 4
|
| G |
Pde6c |
phosphodiesterase 6C, cGMP specific, cone, alpha prime |
|
|
ISS |
1 |
242,459,653 |
242,515,102 |
RGD:7240710 |
OMIM |
Cone-Rod Dystrophy 10
|
| G |
Sema4a |
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A |
|
|
ISS |
2 |
180,552,405 |
180,570,359 |
RGD:7240710 |
OMIM |
Cone-Rod Dystrophy 12
|
| G |
Prom1 |
prominin 1 |
|
|
ISS |
14 |
72,122,986 |
72,230,453 |
RGD:7240710 |
OMIM |
Cone-Rod Dystrophy 13
|
| G |
Rpgrip1 |
retinitis pigmentosa GTPase regulator interacting protein 1 |
|
|
ISS |
15 |
27,574,762 |
27,582,641 |
RGD:7240710 |
OMIM |
CONE-ROD DYSTROPHY 15
|
| G |
Cdhr1 |
cadherin-related family member 1 |
|
|
ISS |
16 |
13,284,018 |
13,303,854 |
RGD:7240710 |
OMIM |
CONE-ROD DYSTROPHY 2
|
| G |
Crx |
cone-rod homeobox |
|
|
ISS |
1 |
76,190,656 |
76,196,333 |
RGD:7240710 |
OMIM |
Cone-Rod Dystrophy 3
|
| G |
Abca4 |
ATP-binding cassette, subfamily A (ABC1), member 4 |
|
|
ISS |
2 |
218,712,663 |
218,849,896 |
RGD:7240710 |
OMIM |
Cone-Rod Dystrophy 5
|
| G |
Pitpnm3 |
PITPNM family member 3 |
|
|
ISS |
10 |
58,903,643 |
58,931,871 |
RGD:7240710 |
OMIM |
Cone-Rod Dystrophy 7
|
| G |
Rims1 |
regulating synaptic membrane exocytosis 1 |
|
|
ISS |
9 |
21,089,088 |
21,594,679 |
RGD:7240710 |
OMIM |
CONE-ROD DYSTROPHY 9
|
| G |
Adam9 |
ADAM metallopeptidase domain 9 |
|
|
ISS |
16 |
71,446,498 |
71,526,108 |
RGD:7240710 |
OMIM |
CONE-ROD DYSTROPHY, X-LINKED, 1
|
| G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
|
ISS |
X |
24,722,378 |
24,782,679 |
RGD:7240710 |
OMIM |
Cone-Rod Dystrophy, X-Linked, 3
|
| G |
Cacna1f |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
|
|
ISS |
X |
26,908,850 |
26,937,165 |
RGD:7240710 |
OMIM |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
|
| G |
Ctdp1 |
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 |
|
|
ISS |
18 |
77,304,752 |
77,365,895 |
RGD:7240710 |
OMIM |
Conjunctivitis
|
| G |
Plg |
plasminogen |
|
|
ISS |
1 |
42,782,464 |
42,825,149 |
RGD:1601405 |
RGD |
Conjunctivitis, Allergic
|
| G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
|
|
IEP |
10 |
70,279,161 |
70,283,762 |
RGD:2307196 |
RGD |
| G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
|
|
IEP |
10 |
71,605,791 |
71,610,330 |
RGD:2307196 |
RGD |
| G |
Ccl7 |
chemokine (C-C motif) ligand 7 |
|
|
ISS |
10 |
70,267,281 |
70,269,131 |
RGD:6483824 |
RGD |
| G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
|
ISS |
8 |
128,759,943 |
128,769,341 |
RGD:6893389 |
RGD |
| G |
Il4r |
interleukin 4 receptor |
|
Susceptibility |
ISS |
1 |
184,612,903 |
184,637,863 |
RGD:4890389 |
RGD |
| G |
Irf1 |
interferon regulatory factor 1 |
|
|
IEP |
10 |
39,220,600 |
39,227,602 |
RGD:5128787 |
RGD |
| G |
Lck |
lymphocyte-specific protein tyrosine kinase |
|
|
IED |
5 |
148,707,505 |
148,718,296 |
RGD:1600225 |
RGD |
| G |
Pla2g2a |
phospholipase A2, group IIA (platelets, synovial fluid) |
|
|
ISS |
5 |
157,654,786 |
157,657,360 |
RGD:6482725 |
RGD |
| G |
Tnc |
tenascin C |
|
|
ISS |
|
|
|
RGD:4889589 |
RGD |
Cornea Plana 2
|
| G |
Kera |
keratocan |
|
|
ISS |
7 |
35,121,875 |
35,129,326 |
RGD:7240710 |
OMIM |
Corneal Diseases
|
| G |
Cd86 |
CD86 molecule |
|
|
IEP |
11 |
66,215,233 |
66,238,882 |
RGD:4892211 |
RGD |
Corneal Dystrophies, Hereditary
|
| G |
Elovl4 |
ELOVL fatty acid elongase 4 |
|
|
ISS |
8 |
88,855,155 |
88,881,703 |
RGD:1598895 |
RGD |
| G |
Kera |
keratocan |
|
|
ISS |
7 |
35,121,875 |
35,129,326 |
RGD:1600335 |
RGD |
| G |
Krt12 |
keratin 12 |
|
Susceptibility |
ISS |
10 |
88,321,126 |
88,328,759 |
RGD:1600169 |
RGD |
| G |
Pde6a |
phosphodiesterase 6A, cGMP-specific, rod, alpha |
|
|
ISS |
18 |
57,194,726 |
57,268,536 |
RGD:704404 |
RGD |
| G |
Tacstd2 |
tumor-associated calcium signal transducer 2 |
|
|
ISS |
4 |
97,803,151 |
97,804,851 |
RGD:1599194 |
RGD |
| G |
Tgfbi |
transforming growth factor, beta induced |
|
|
ISS |
17 |
13,904,882 |
13,935,110 |
RGD:1599387 |
RGD |
| G |
Tgfbi |
transforming growth factor, beta induced |
|
|
TAS |
17 |
13,904,882 |
13,935,110 |
RGD:619610 |
RGD |
| G |
Vsx1 |
visual system homeobox 1 |
|
|
ISS |
3 |
141,322,816 |
141,330,415 |
RGD:1599773 |
RGD |
Corneal dystrophy and perceptive deafness
|
| G |
Slc4a11 |
solute carrier family 4, sodium borate transporter, member 11 |
|
|
ISS |
3 |
118,313,086 |
118,325,392 |
RGD:7240710 |
OMIM |
Corneal dystrophy Avellino type
|
| G |
Tgfbi |
transforming growth factor, beta induced |
|
|
ISS |
17 |
13,904,882 |
13,935,110 |
RGD:7240710 |
OMIM |
Corneal dystrophy of Bowman layer, type 1
|
| G |
Tgfbi |
transforming growth factor, beta induced |
|
|
ISS |
17 |
13,904,882 |
13,935,110 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Congenital Stromal
|
| G |
Dcn |
decorin |
|
|
ISS |
7 |
35,004,234 |
35,045,191 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Crystalline, of Schnyder
|
| G |
Ubiad1 |
UbiA prenyltransferase domain containing 1 |
|
|
ISS |
5 |
165,515,219 |
165,526,817 |
RGD:7240710 |
OMIM |
Corneal dystrophy, epithelial basement membrane
|
| G |
Tgfbi |
transforming growth factor, beta induced |
|
|
ISS |
17 |
13,904,882 |
13,935,110 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Fleck
|
| G |
Pikfyve |
phosphoinositide kinase, FYVE finger containing |
|
|
ISS |
9 |
63,798,743 |
63,890,905 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Fuchs Endothelial, 4
|
| G |
Slc4a11 |
solute carrier family 4, sodium borate transporter, member 11 |
|
|
ISS |
3 |
118,313,086 |
118,325,392 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Fuchs Endothelial, 6
|
| G |
Zeb1 |
zinc finger E-box binding homeobox 1 |
|
|
ISS |
17 |
60,177,150 |
60,198,584 |
RGD:7240710 |
OMIM |
Corneal dystrophy, Fuchs' endothelial, 1
|
| G |
Col8a2 |
collagen, type VIII, alpha 2 |
|
|
ISS |
5 |
145,679,681 |
145,684,323 |
RGD:7240710 |
OMIM |
Corneal dystrophy, gelatinous drop-like
|
| G |
Tacstd2 |
tumor-associated calcium signal transducer 2 |
|
|
ISS |
4 |
97,803,151 |
97,804,851 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
| G |
Krt12 |
keratin 12 |
|
|
ISS |
10 |
88,321,126 |
88,328,759 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Lattice Type IIIA
|
| G |
Tgfbi |
transforming growth factor, beta induced |
|
|
ISS |
17 |
13,904,882 |
13,935,110 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Posterior Polymorphous, 1
|
| G |
Vsx1 |
visual system homeobox 1 |
|
|
ISS |
3 |
141,322,816 |
141,330,415 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Posterior Polymorphous, 2
|
| G |
Col8a2 |
collagen, type VIII, alpha 2 |
|
|
ISS |
5 |
145,679,681 |
145,684,323 |
RGD:7240710 |
OMIM |
Corneal Dystrophy, Posterior Polymorphous, 3
|
| G |
Zeb1 |
zinc finger E-box binding homeobox 1 |
|
|
ISS |
17 |
60,177,150 |
60,198,584 |
RGD:7240710 |
OMIM |
Corneal endothelial dystrophy type 2
|
| G |
Slc4a11 |
solute carrier family 4, sodium borate transporter, member 11 |
|
|
ISS |
3 |
118,313,086 |
118,325,392 |
RGD:7240710 |
OMIM |
Corneal Neovascularization
|
| G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
|
ISS |
8 |
128,759,943 |
128,769,341 |
RGD:6892921 |
RGD |
| G |
Cd36 |
CD36 molecule (thrombospondin receptor) |
|
|
ISS |
4 |
13,471,878 |
13,525,620 |
RGD:6893528 |
RGD |
| G |
Itgav |
integrin, alpha V |
|
|
IED |
3 |
66,953,403 |
67,029,774 |
RGD:1582461 |
RGD |
| G |
Pecam1 |
platelet/endothelial cell adhesion molecule 1 |
|
|
ISS |
10 |
96,056,220 |
96,057,232 |
RGD:6771229 |
RGD |
| G |
Pecam1 |
platelet/endothelial cell adhesion molecule 1 |
|
|
ISS |
10 |
96,056,220 |
96,057,232 |
RGD:6771213 |
RGD |
Corneal Opacity
|
| Q |
Cati1 |
Cataract Ihara QTL 1 |
|
|
IED |
8 |
16,468,237 |
61,468,237 |
RGD:68701 |
RGD |
| Q |
Cati2 |
Cataract Ihara QTL 2 |
|
|
IED |
15 |
16,458,810 |
61,458,810 |
RGD:68701 |
RGD |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
|
| G |
Igbp1 |
immunoglobulin (CD79A) binding protein 1 |
|
|
ISS |
X |
88,490,498 |
88,507,054 |
RGD:7240710 |
OMIM |
Dementia, familial Danish
|
| G |
Itm2b |
integral membrane protein 2B |
|
|
ISS |
15 |
54,005,134 |
54,028,036 |
RGD:7240710 |
OMIM |
Diabetic Retinopathy
|
| G |
Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
|
|
IEA |
10 |
95,361,338 |
95,381,455 |
RGD:1331525 |
RGD |
| G |
Acp1 |
acid phosphatase 1, soluble |
|
|
ISS |
6 |
48,784,243 |
48,798,868 |
RGD:2313184 |
RGD |
| G |
Adm |
adrenomedullin |
|
|
ISS |
1 |
168,380,255 |
168,382,426 |
RGD:2313312 |
RGD |
| G |
Adrb3 |
adrenoceptor beta 3 |
|
|
ISS |
16 |
69,163,620 |
69,166,384 |
RGD:5684400 |
RGD |
| G |
Ager |
advanced glycosylation end product-specific receptor |
|
Susceptibility |
IAGP |
20 |
4,250,613 |
4,253,540 |
RGD:7244175 |
RGD |
| G |
Ager |
advanced glycosylation end product-specific receptor |
|
|
ISS |
20 |
4,250,613 |
4,253,540 |
RGD:7244174 |
RGD |
| G |
Ager |
advanced glycosylation end product-specific receptor |
|
No_Association |
ISS |
20 |
4,250,613 |
4,253,540 |
RGD:7244176 |
RGD |
| G |
Ager |
advanced glycosylation end product-specific receptor |
|
|
IEP |
20 |
4,250,613 |
4,253,540 |
RGD:7244248 |
RGD |
| G |
Ager |
advanced glycosylation end product-specific receptor |
|
|
IEA |
20 |
4,250,613 |
4,253,540 |
RGD:1331525 |
RGD |
| G |
Ager |
advanced glycosylation end product-specific receptor |
|
Treatment |
IED |
20 |
4,250,613 |
4,253,540 |
RGD:7244369 |
RGD |
| G |
Akr1b1 |
aldo-keto reductase family 1, member B1 (aldose reductase) |
|
|
IED |
4 |
61,645,438 |
61,659,530 |
RGD:1626080 |
RGD |
| G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
|
|
ISS |
15 |
27,083,089 |
27,083,526 |
RGD:2307061 |
RGD |
| G |
Angpt1 |
angiopoietin 1 |
|
|
ISS |
7 |
78,195,504 |
78,451,471 |
RGD:2313818 |
RGD |
| G |
Angpt2 |
angiopoietin 2 |
|
|
IED |
16 |
75,891,757 |
75,942,255 |
RGD:2314216 |
RGD |
| G |
Angpt2 |
angiopoietin 2 |
|
|
IEP |
16 |
75,891,757 |
75,942,255 |
RGD:2314216 |
RGD |
| G |
Aoc3 |
amine oxidase, copper containing 3 |
|
|
ISS |
10 |
90,357,094 |
90,365,040 |
RGD:2313826 |
RGD |
| G |
Apoa4 |
apolipoprotein A-IV |
|
|
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5685692 |
RGD |
| G |
Apob |
apolipoprotein B |
|
|
ISS |
6 |
31,508,060 |
31,548,083 |
RGD:2313976 |
RGD |
| G |
Apoc3 |
apolipoprotein C-III |
|
Severity |
ISS |
|
|
|
RGD:2306768 |
RGD |
| G |
Apoh |
apolipoprotein H (beta-2-glycoprotein I) |
|
|
ISS |
10 |
97,725,088 |
97,739,213 |
RGD:2313982 |
RGD |
| G |
Bdkrb1 |
bradykinin receptor B1 |
|
|
IPM |
6 |
129,760,129 |
129,762,545 |
RGD:2313334 |
RGD |
| G |
Bdkrb2 |
bradykinin receptor B2 |
|
|
IPM |
6 |
129,744,781 |
129,748,851 |
RGD:2313334 |
RGD |
| G |
Casp3 |
caspase 3 |
|
|
IEP |
16 |
48,944,226 |
48,962,420 |
RGD:2311444 |
RGD |
| G |
Casp3 |
caspase 3 |
|
|
ISS |
16 |
48,944,226 |
48,962,420 |
RGD:2311448 |
RGD |
| G |
Casp9 |
caspase 9, apoptosis-related cysteine peptidase |
|
|
ISS |
5 |
160,704,234 |
160,721,796 |
RGD:2311244 |
RGD |
| G |
Cat |
catalase |
|
|
IEP |
3 |
88,654,077 |
88,686,212 |
RGD:5130875 |
RGD |
| G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
|
|
ISS |
10 |
71,605,791 |
71,610,330 |
RGD:2307061 |
RGD |
| G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
|
Severity |
ISS |
10 |
71,605,791 |
71,610,330 |
RGD:2307104 |
RGD |
| G |
Cd59 |
CD59 molecule, complement regulatory protein |
|
|
IEP |
3 |
89,243,600 |
89,245,129 |
RGD:1600487 |
RGD |
| G |
Ctgf |
connective tissue growth factor |
|
|
IEP |
1 |
21,327,099 |
21,330,215 |
RGD:2314507 |
RGD |
| G |
Cxcl10 |
chemokine (C-X-C motif) ligand 10 |
|
|
ISS |
14 |
17,265,986 |
17,268,183 |
RGD:2311361 |
RGD |
| G |
Cxcl12 |
chemokine (C-X-C motif) ligand 12 |
|
Severity |
ISS |
4 |
153,503,576 |
153,516,423 |
RGD:2306559 |
RGD |
| G |
Cyba |
cytochrome b-245, alpha polypeptide |
|
|
IEP |
19 |
52,713,150 |
52,721,609 |
RGD:2317854 |
RGD |
| G |
Edn1 |
endothelin 1 |
|
|
ISS |
17 |
28,303,886 |
28,309,775 |
RGD:2313281 |
RGD |
| G |
Edn1 |
endothelin 1 |
|
|
ISS |
17 |
28,303,886 |
28,309,775 |
RGD:2313279 |
RGD |
| G |
Egfr |
epidermal growth factor receptor |
|
|
ISS |
14 |
97,617,358 |
97,788,211 |
RGD:1580957 |
RGD |
| G |
Eng |
endoglin |
|
|
ISS |
|
|
|
RGD:1580961 |
RGD |
| G |
Epo |
erythropoietin |
|
|
ISS |
12 |
19,551,768 |
19,555,208 |
RGD:2313890 |
RGD |
| G |
Epo |
erythropoietin |
|
|
ISS |
12 |
19,551,768 |
19,555,208 |
RGD:2313838 |
RGD |
| G |
Epo |
erythropoietin |
|
|
ISS |
12 |
19,551,768 |
19,555,208 |
RGD:2313837 |
RGD |
| G |
F7 |
coagulation factor VII (serum prothrombin conversion accelerator) |
|
|
ISS |
16 |
81,348,678 |
81,358,991 |
RGD:2312398 |
RGD |
| G |
Fgf2 |
fibroblast growth factor 2 |
|
|
IEP |
2 |
123,893,314 |
123,947,136 |
RGD:2315875 |
RGD |
| G |
Fgf2 |
fibroblast growth factor 2 |
|
|
ISS |
2 |
123,893,314 |
123,947,136 |
RGD:2315845 |
RGD |
| G |
Fgf2 |
fibroblast growth factor 2 |
|
|
ISS |
2 |
123,893,314 |
123,947,136 |
RGD:2315885 |
RGD |
| G |
Fgf2 |
fibroblast growth factor 2 |
|
|
ISS |
2 |
123,893,314 |
123,947,136 |
RGD:2315844 |
RGD |
| G |
Flt1 |
FMS-related tyrosine kinase 1 |
|
|
ISS |
12 |
7,858,092 |
8,035,966 |
RGD:2313721 |
RGD |
| G |
Fuca1 |
fucosidase, alpha-L- 1, tissue |
|
|
IEP |
5 |
154,703,722 |
154,720,971 |
RGD:2315932 |
RGD |
| G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
|
IEP |
4 |
161,282,215 |
161,286,090 |
RGD:2315975 |
RGD |
| G |
Gc |
group specific component |
|
|
ISS |
14 |
20,166,243 |
20,197,060 |
RGD:2315548 |
RGD |
| G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
|
ISS |
|
|
|
RGD:2315614 |
RGD |
| G |
Gh1 |
growth hormone 1 |
|
|
ISS |
10 |
95,692,240 |
95,694,117 |
RGD:2315688 |
RGD |
| G |
Glo1 |
glyoxalase 1 |
|
No_Association |
ISS |
20 |
8,900,984 |
8,919,001 |
RGD:7242569 |
RGD |
| G |
Hgf |
hepatocyte growth factor |
|
Disease_progression |
ISS |
4 |
14,864,357 |
14,932,513 |
RGD:2313565 |
RGD |
| G |
Hras |
Harvey rat sarcoma virus oncogene |
|
|
IED |
1 |
201,385,705 |
201,388,987 |
RGD:1358731 |
RGD |
| G |
Icam1 |
intercellular adhesion molecule 1 |
|
|
ISS |
8 |
20,040,177 |
20,051,939 |
RGD:2313471 |
RGD |
| G |
Icam1 |
intercellular adhesion molecule 1 |
|
|
ISS |
8 |
20,040,177 |
20,051,939 |
RGD:2313472 |
RGD |
| G |
Igf1 |
insulin-like growth factor 1 |
|
Susceptibility |
ISS |
7 |
24,531,669 |
24,605,742 |
RGD:1598424 |
RGD |
| G |
Igf1 |
insulin-like growth factor 1 |
|
|
ISS |
7 |
24,531,669 |
24,605,742 |
RGD:2313764 |
RGD |
| G |
Il10 |
interleukin 10 |
|
Susceptibility |
ISS |
13 |
43,953,900 |
43,957,766 |
RGD:2307272 |
RGD |
| G |
Il10 |
interleukin 10 |
|
|
ISS |
13 |
43,953,900 |
43,957,766 |
RGD:2307061 |
RGD |
| G |
Il10 |
interleukin 10 |
|
|
ISS |
13 |
43,953,900 |
43,957,766 |
RGD:1598486 |
RGD |
| G |
Il18 |
interleukin 18 |
|
|
ISS |
8 |
53,936,584 |
53,943,228 |
RGD:4889417 |
RGD |
| G |
Il1a |
interleukin 1 alpha |
|
|
ISS |
3 |
116,913,612 |
116,924,114 |
RGD:2307061 |
RGD |
| G |
Il1b |
interleukin 1 beta |
|
|
ISS |
3 |
116,964,422 |
116,970,867 |
RGD:2307061 |
RGD |
| G |
Il6 |
interleukin 6 |
|
|
ISS |
4 |
456,799 |
461,376 |
RGD:2307272 |
RGD |
| G |
Il6 |
interleukin 6 |
|
|
ISS |
4 |
456,799 |
461,376 |
RGD:2307267 |
RGD |
| G |
Ins2 |
insulin 2 |
|
|
ISS |
1 |
202,935,548 |
202,936,379 |
RGD:6902909 |
RGD |
| G |
Itga2 |
integrin, alpha 2 |
|
Severity |
ISS |
2 |
46,967,681 |
47,080,909 |
RGD:2307419 |
RGD |
| G |
Mmp2 |
matrix metallopeptidase 2 |
|
Spontaneous |
ISS |
19 |
15,246,036 |
15,275,061 |
RGD:1582582 |
RGD |
| G |
Mmp9 |
matrix metallopeptidase 9 |
|
|
ISS |
3 |
155,985,473 |
155,993,433 |
RGD:1582616 |
RGD |
| G |
Mthfr |
methylenetetrahydrofolate reductase (NAD(P)H) |
|
Susceptibility |
ISS |
5 |
165,112,850 |
165,126,885 |
RGD:6893525 |
RGD |
| G |
Ngf |
nerve growth factor (beta polypeptide) |
|
|
ISS |
2 |
197,621,726 |
197,632,960 |
RGD:7242804 |
RGD |
| G |
Nos1 |
nitric oxide synthase 1, neuronal |
|
|
IEP |
12 |
39,812,500 |
39,869,484 |
RGD:1642141 |
RGD |
| G |
Nppa |
natriuretic peptide A |
|
|
ISS |
5 |
165,074,518 |
165,075,827 |
RGD:2313589 |
RGD |
| G |
Npr3 |
natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) |
|
|
IEP |
2 |
61,278,264 |
61,341,460 |
RGD:1580773 |
RGD |
| G |
Pgf |
placental growth factor |
|
|
IEP |
6 |
109,215,540 |
109,226,122 |
RGD:6483775 |
RGD |
| G |
Pon1 |
paraoxonase 1 |
|
|
ISS |
4 |
29,936,314 |
29,964,821 |
RGD:2313272 |
RGD |
| G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
Onset |
ISS |
4 |
151,492,220 |
151,617,331 |
RGD:2301854 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
IEP |
14 |
64,278,115 |
64,370,912 |
RGD:5686899 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
IED |
14 |
64,278,115 |
64,370,912 |
RGD:6484532 |
RGD |
| G |
Retn |
resistin |
|
|
ISS |
12 |
2,499,630 |
2,501,370 |
RGD:7207162 |
RGD |
| G |
Serpina4 |
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 |
|
|
ISS |
6 |
128,133,692 |
128,142,768 |
RGD:1580289 |
RGD |
| G |
Serpinf1 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 |
|
|
ISS |
10 |
62,713,441 |
62,739,444 |
RGD:2312341 |
RGD |
| G |
Serpinf1 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 |
|
|
IEP |
10 |
62,713,441 |
62,739,444 |
RGD:2312348 |
RGD |
| G |
Serpinf1 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 |
|
|
ISS |
10 |
62,713,441 |
62,739,444 |
RGD:2312346 |
RGD |
| G |
Serpinf1 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 |
|
|
ISS |
10 |
62,713,441 |
62,739,444 |
RGD:2312337 |
RGD |
| G |
Serpinf1 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 |
|
|
ISS |
10 |
62,713,441 |
62,739,444 |
RGD:2312344 |
RGD |
| G |
Sod3 |
superoxide dismutase 3, extracellular |
|
|
ISS |
14 |
63,381,447 |
63,387,180 |
RGD:1581298 |
RGD |
| G |
Thbs1 |
thrombospondin 1 |
|
|
IEP |
|
|
|
RGD:2317943 |
RGD |
| G |
Tlr4 |
toll-like receptor 4 |
|
Onset |
ISS |
5 |
83,564,100 |
83,577,735 |
RGD:2312487 |
RGD |
| G |
Uts2 |
urotensin 2 |
|
|
ISS |
5 |
168,143,315 |
168,148,700 |
RGD:2306795 |
RGD |
| G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
|
ISS |
2 |
212,277,654 |
212,297,376 |
RGD:2312762 |
RGD |
| G |
Vdr |
vitamin D (1,25- dihydroxyvitamin D3) receptor |
|
|
ISS |
7 |
136,567,614 |
136,617,280 |
RGD:1580363 |
RGD |
| G |
Vegfa |
vascular endothelial growth factor A |
|
|
ISS |
9 |
10,520,730 |
10,536,071 |
RGD:1580565 |
RGD |
| G |
Vegfa |
vascular endothelial growth factor A |
|
|
ISS |
9 |
10,520,730 |
10,536,071 |
RGD:2301992 |
RGD |
| G |
Vtn |
vitronectin |
|
|
ISS |
10 |
64,609,242 |
64,612,322 |
RGD:1580818 |
RGD |
| G |
Vwf |
von Willebrand factor |
|
|
ISS |
4 |
161,723,415 |
161,854,766 |
RGD:1580648 |
RGD |
| S |
SDT/Jcl |
|
|
|
TAS |
|
|
|
RGD:631173 |
RGD |
Donnai-Barrow syndrome
|
| G |
Lrp2 |
low density lipoprotein receptor-related protein 2 |
|
|
ISS |
3 |
51,563,764 |
51,724,478 |
RGD:7240710 |
OMIM |
Doyne honeycomb retinal dystrophy
|
| G |
Efemp1 |
EGF-containing fibulin-like extracellular matrix protein 1 |
|
|
ISS |
14 |
109,733,625 |
109,828,630 |
RGD:7240710 |
OMIM |
Dry Eye Syndromes
|
| G |
Ccl4 |
chemokine (C-C motif) ligand 4 |
|
|
ISS |
10 |
71,759,643 |
71,761,115 |
RGD:5130907 |
RGD |
| G |
Hspa4 |
heat shock protein 4 |
|
|
ISS |
10 |
38,705,629 |
38,749,058 |
RGD:6218964 |
RGD |
| G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
|
IEP |
|
|
|
RGD:2324954 |
RGD |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
|
| G |
Cdh3 |
cadherin 3 |
|
|
ISS |
19 |
36,343,823 |
36,393,819 |
RGD:7240710 |
OMIM |
Ectopia Lentis
|
| G |
Fbn1 |
fibrillin 1 |
|
|
ISS |
3 |
112,608,480 |
112,804,118 |
RGD:1580380 |
RGD |
| G |
Fbn1 |
fibrillin 1 |
|
|
ISS |
3 |
112,608,480 |
112,804,118 |
RGD:1300363 |
RGD |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
| G |
Fbn1 |
fibrillin 1 |
|
|
ISS |
3 |
112,608,480 |
112,804,118 |
RGD:7240710 |
OMIM |
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
|
| G |
Adamtsl4 |
ADAMTS-like 4 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Ectopia Lentis, Isolated, Autosomal Recessive
|
| G |
Adamtsl4 |
ADAMTS-like 4 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
|
| G |
Col2a1 |
collagen, type II, alpha 1 |
|
|
ISS |
7 |
136,679,219 |
136,707,976 |
RGD:7240710 |
OMIM |
Epiretinal Membrane
|
| G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
|
ISS |
X |
12,542,496 |
12,547,094 |
RGD:2312481 |
RGD |
| G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
|
ISS |
10 |
108,310,473 |
108,358,821 |
RGD:2312481 |
RGD |
| G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
|
ISS |
7 |
19,677,144 |
19,727,072 |
RGD:2312481 |
RGD |
Episodic ataxia with nystagmus
|
| G |
Cacna1a |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
|
|
ISS |
19 |
25,188,170 |
25,424,495 |
RGD:7240710 |
OMIM |
Exfoliation Syndrome
|
| G |
Loxl1 |
lysyl oxidase-like 1 |
|
|
ISS |
8 |
62,083,052 |
62,106,827 |
RGD:7240710 |
OMIM |
| G |
Optn |
optineurin |
|
No_Association |
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480509 |
RGD |
Exudative vitreoretinopathy 1
|
| G |
Fzd4 |
frizzled family receptor 4 |
|
|
ISS |
1 |
145,953,743 |
145,957,666 |
RGD:7240710 |
OMIM |
EXUDATIVE VITREORETINOPATHY 2, X-LINKED
|
| G |
Ndp |
Norrie disease (pseudoglioma) |
|
|
ISS |
X |
17,416,946 |
17,441,393 |
RGD:7240710 |
OMIM |
Exudative Vitreoretinopathy 4
|
| G |
Lrp5 |
low density lipoprotein receptor-related protein 5 |
|
|
ISS |
1 |
206,102,750 |
206,206,350 |
RGD:7240710 |
OMIM |
Exudative Vitreoretinopathy 5
|
| G |
Tspan12 |
tetraspanin 12 |
|
|
ISS |
4 |
48,084,836 |
48,164,956 |
RGD:7240710 |
OMIM |
Eye Abnormalities
|
| G |
Col5a2 |
collagen, type V, alpha 2 |
|
|
ISS |
9 |
44,374,113 |
44,525,086 |
RGD:1600694 |
RGD |
| G |
Fras1 |
Fraser syndrome 1 |
|
|
ISS |
14 |
14,309,668 |
14,574,022 |
RGD:1598960 |
RGD |
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:1601210 |
RGD |
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:1601211 |
RGD |
| G |
Pax6 |
paired box 6 |
|
|
IED |
3 |
91,127,605 |
91,149,178 |
RGD:731242 |
RGD |
Eye Diseases, Hereditary
|
| G |
Col18a1 |
collagen, type XVIII, alpha 1 |
|
Susceptibility |
ISS |
20 |
11,920,816 |
11,982,468 |
RGD:1600885 |
RGD |
| G |
Foxe3 |
forkhead box E3 |
|
|
ISS |
5 |
135,285,688 |
135,286,548 |
RGD:1598957 |
RGD |
| G |
Guca1a |
guanylate cyclase activator 1a (retina) |
|
|
ISS |
9 |
9,046,617 |
9,056,984 |
RGD:1599353 |
RGD |
| G |
Ndp |
Norrie disease (pseudoglioma) |
|
|
ISS |
X |
17,416,946 |
17,441,393 |
RGD:1600222 |
RGD |
| G |
Rgs9 |
regulator of G-protein signaling 9 |
|
|
ISS |
10 |
98,598,326 |
98,647,948 |
RGD:1599999 |
RGD |
| G |
Sag |
S-antigen; retina and pineal gland (arrestin) |
|
|
ISS |
9 |
86,759,933 |
86,799,902 |
RGD:734491 |
RGD |
| G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
Susceptibility |
ISS |
7 |
19,677,144 |
19,727,072 |
RGD:1600153 |
RGD |
Eye Infections
|
| S |
LEW |
Lewis |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
| S |
PVG |
PVG |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
Eye Infections, Fungal
|
| G |
Tlr2 |
toll-like receptor 2 |
|
|
IEP |
2 |
175,607,990 |
175,613,992 |
RGD:2312502 |
RGD |
| G |
Tlr4 |
toll-like receptor 4 |
|
|
IEP |
5 |
83,564,100 |
83,577,735 |
RGD:2312502 |
RGD |
Eyelid Diseases
|
| G |
Foxc2 |
forkhead box C2 |
|
|
ISS |
|
|
|
RGD:1601217 |
RGD |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
|
| G |
Kif21a |
kinesin family member 21A |
|
|
ISS |
7 |
129,337,712 |
129,456,728 |
RGD:7240710 |
OMIM |
Fibrosis Of Extraocular Muscles, Congenital, 2
|
| G |
Phox2a |
paired-like homeobox 2a |
|
|
ISS |
1 |
159,273,524 |
159,312,136 |
RGD:7240710 |
OMIM |
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement
|
| G |
Tubb3 |
tubulin, beta 3 class III |
|
|
ISS |
19 |
53,742,652 |
53,751,706 |
RGD:7240710 |
OMIM |
FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
|
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:7240710 |
OMIM |
Fraser Syndrome
|
| G |
Fras1 |
Fraser syndrome 1 |
|
|
ISS |
14 |
14,309,668 |
14,574,022 |
RGD:7240710 |
OMIM |
| G |
Frem2 |
Fras1 related extracellular matrix protein 2 |
|
|
ISS |
2 |
142,464,169 |
142,604,059 |
RGD:7240710 |
OMIM |
FRONTONASAL DYSPLASIA 3
|
| G |
Alx1 |
ALX homeobox 1 |
|
|
ISS |
7 |
41,090,481 |
41,110,281 |
RGD:7240710 |
OMIM |
Fundus Albipunctatus
|
| G |
Prph |
peripherin |
|
|
ISS |
7 |
137,836,152 |
137,839,931 |
RGD:7240710 |
OMIM |
| G |
Prph2 |
peripherin 2 |
|
|
ISS |
9 |
9,251,024 |
9,272,513 |
RGD:7240710 |
OMIM |
| G |
Rdh5 |
retinol dehydrogenase 5 (11-cis/9-cis) |
|
|
ISS |
7 |
2,212,121 |
2,217,394 |
RGD:7240710 |
OMIM |
| G |
Rho |
rhodopsin |
|
|
ISS |
4 |
152,057,788 |
152,062,950 |
RGD:7240710 |
OMIM |
| G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
|
ISS |
1 |
135,122,063 |
135,135,420 |
RGD:7240710 |
OMIM |
Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
|
| G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
|
ISS |
7 |
19,677,144 |
19,727,072 |
RGD:7240710 |
OMIM |
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
|
| G |
Robo3 |
roundabout, axon guidance receptor, homolog 3 (Drosophila) |
|
|
ISS |
8 |
38,668,913 |
38,683,439 |
RGD:7240710 |
OMIM |
Glaucoma
|
| G |
Apoa4 |
apolipoprotein A-IV |
|
|
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5685641 |
RGD |
| G |
Apoe |
apolipoprotein E |
|
|
IEA |
1 |
79,003,634 |
79,006,387 |
RGD:1331525 |
RGD |
| G |
Bad |
BCL2-associated agonist of cell death |
|
|
IEP |
1 |
209,617,373 |
209,626,292 |
RGD:2292690 |
RGD |
| G |
Becn1 |
beclin 1, autophagy related |
|
|
IEP |
10 |
90,317,957 |
90,333,329 |
RGD:6483048 |
RGD |
| G |
Ccnd2 |
cyclin D2 |
|
|
IEP |
4 |
163,523,817 |
163,546,501 |
RGD:2289160 |
RGD |
| G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
|
|
IEP |
4 |
171,841,705 |
171,846,506 |
RGD:2293623 |
RGD |
| G |
Cntf |
ciliary neurotrophic factor |
|
|
IED |
1 |
215,842,668 |
215,844,691 |
RGD:1626115 |
RGD |
| G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
|
ISS |
6 |
2,548,224 |
2,553,767 |
RGD:1599716 |
RGD |
| G |
Myoc |
myocilin, trabecular meshwork inducible glucocorticoid response |
|
|
TAS |
13 |
78,303,830 |
78,314,228 |
RGD:633384 |
RGD |
| G |
Ngf |
nerve growth factor (beta polypeptide) |
|
|
IEP |
2 |
197,621,726 |
197,632,960 |
RGD:2303806 |
RGD |
| G |
Ngfr |
nerve growth factor receptor |
|
|
IED |
10 |
84,262,804 |
84,281,006 |
RGD:5508695 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
IEP |
2 |
179,838,740 |
179,855,545 |
RGD:5684379 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
IED |
2 |
179,838,740 |
179,855,545 |
RGD:5508695 |
RGD |
| G |
Ntrk2 |
neurotrophic tyrosine kinase, receptor, type 2 |
|
|
IED |
17 |
11,494,463 |
11,811,654 |
RGD:5684908 |
RGD |
| G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
|
ISS |
3 |
15,343,832 |
15,365,412 |
RGD:5688244 |
RGD |
| G |
Sncg |
synuclein, gamma (breast cancer-specific protein 1) |
|
|
IEP |
16 |
10,025,978 |
10,030,516 |
RGD:6480100 |
RGD |
| G |
Sncg |
synuclein, gamma (breast cancer-specific protein 1) |
|
|
ISS |
16 |
10,025,978 |
10,030,516 |
RGD:6218971 |
RGD |
| G |
Txn1 |
thioredoxin 1 |
|
|
IEP |
5 |
75,921,365 |
75,933,595 |
RGD:2306193 |
RGD |
| G |
Txnip |
thioredoxin interacting protein |
|
|
IEP |
2 |
191,356,954 |
191,360,757 |
RGD:2306193 |
RGD |
Glaucoma 1, Open Angle, A
|
| G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
|
ISS |
6 |
2,548,224 |
2,553,767 |
RGD:7240710 |
OMIM |
| G |
Myoc |
myocilin, trabecular meshwork inducible glucocorticoid response |
|
|
ISS |
13 |
78,303,830 |
78,314,228 |
RGD:7240710 |
OMIM |
Glaucoma 1, Open Angle, G
|
| G |
Wdr36 |
WD repeat domain 36 |
|
|
ISS |
18 |
25,294,369 |
25,322,294 |
RGD:7240710 |
OMIM |
Glaucoma 1, Open Angle, O
|
| G |
Ntf4 |
neurotrophin 4 |
|
|
ISS |
1 |
95,885,577 |
95,888,408 |
RGD:7240710 |
OMIM |
Glaucoma 3, Primary Congenital, A
|
| G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
|
ISS |
6 |
2,548,224 |
2,553,767 |
RGD:7240710 |
OMIM |
Glaucoma 3, Primary Congenital, D
|
| G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
|
|
ISS |
6 |
108,826,446 |
108,924,746 |
RGD:7240710 |
OMIM |
| G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
|
ISS |
1 |
208,369,474 |
208,385,572 |
RGD:7240710 |
OMIM |
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
|
| G |
Opa1 |
optic atrophy 1 |
|
|
ISS |
11 |
73,005,470 |
73,058,136 |
RGD:7240710 |
OMIM |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:7240710 |
OMIM |
Glaucoma, Open-Angle
|
| G |
Il2 |
interleukin 2 |
|
|
ISS |
2 |
123,655,005 |
123,659,709 |
RGD:5147910 |
RGD |
| G |
Myoc |
myocilin, trabecular meshwork inducible glucocorticoid response |
|
|
ISS |
13 |
78,303,830 |
78,314,228 |
RGD:1600840 |
RGD |
| G |
Myoc |
myocilin, trabecular meshwork inducible glucocorticoid response |
|
|
ISS |
13 |
78,303,830 |
78,314,228 |
RGD:1600842 |
RGD |
| G |
Myoc |
myocilin, trabecular meshwork inducible glucocorticoid response |
|
|
ISS |
13 |
78,303,830 |
78,314,228 |
RGD:1600838 |
RGD |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:1600995 |
RGD |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480510 |
RGD |
| G |
Optn |
optineurin |
|
No_Association |
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480509 |
RGD |
| G |
Optn |
optineurin |
|
No_Association |
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480513 |
RGD |
| G |
Tap1 |
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
|
Susceptibility |
ISS |
20 |
4,790,363 |
4,800,730 |
RGD:6482266 |
RGD |
Glaucoma, Primary Open Angle
|
| G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
|
ISS |
6 |
2,548,224 |
2,553,767 |
RGD:7240710 |
OMIM |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:7240710 |
OMIM |
Graves Disease
|
| G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
|
ISS |
11 |
79,908,291 |
79,911,065 |
RGD:5686857 |
RGD |
| G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
Severity |
ISS |
11 |
79,908,291 |
79,911,065 |
RGD:5686818 |
RGD |
| G |
C4a |
complement component 4A (Rodgers blood group) |
|
|
ISS |
20 |
4,106,123 |
4,145,904 |
RGD:5688264 |
RGD |
| G |
C4b |
complement component 4B (Chido blood group) |
|
|
ISS |
20 |
4,300,687 |
4,315,882 |
RGD:5688264 |
RGD |
| G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
No_Association |
ISS |
9 |
59,495,773 |
59,501,300 |
RGD:2302000 |
RGD |
| G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
|
ISS |
9 |
59,495,773 |
59,501,300 |
RGD:2302001 |
RGD |
| G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
|
ISS |
9 |
59,495,773 |
59,501,300 |
RGD:1300388 |
RGD |
| G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
|
ISS |
8 |
61,462,207 |
61,468,237 |
RGD:5147671 |
RGD |
| G |
Fkbp1b |
FK506 binding protein 1b |
|
|
ISS |
|
|
|
RGD:1580387 |
RGD |
| G |
Gc |
group specific component |
|
Susceptibility |
ISS |
14 |
20,166,243 |
20,197,060 |
RGD:5509883 |
RGD |
| G |
Gc |
group specific component |
|
Susceptibility |
ISS |
14 |
20,166,243 |
20,197,060 |
RGD:5509886 |
RGD |
| G |
Gc |
group specific component |
|
|
ISS |
14 |
20,166,243 |
20,197,060 |
RGD:7240710 |
OMIM |
| G |
Igf1r |
insulin-like growth factor 1 receptor |
|
|
ISS |
1 |
122,704,976 |
122,990,007 |
RGD:5686433 |
RGD |
| G |
Il3 |
interleukin 3 |
|
|
ISS |
10 |
39,684,691 |
39,687,041 |
RGD:5686901 |
RGD |
| G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 (lymphoid) |
|
|
ISS |
2 |
199,083,186 |
199,144,309 |
RGD:6484538 |
RGD |
| G |
Stat4 |
signal transducer and activator of transcription 4 |
|
|
ISS |
9 |
46,510,251 |
46,650,076 |
RGD:7207875 |
RGD |
| G |
Stat6 |
signal transducer and activator of transcription 6, interleukin-4 induced |
|
|
ISS |
7 |
67,623,534 |
67,642,283 |
RGD:7244137 |
RGD |
| G |
Tshr |
thyroid stimulating hormone receptor |
|
|
ISS |
6 |
115,024,999 |
115,162,531 |
RGD:7240710 |
OMIM |
| G |
Vdr |
vitamin D (1,25- dihydroxyvitamin D3) receptor |
|
|
IEA |
7 |
136,567,614 |
136,617,280 |
RGD:1331525 |
RGD |
Graves Ophthalmopathy
|
| G |
Il3 |
interleukin 3 |
|
|
ISS |
10 |
39,684,691 |
39,687,041 |
RGD:5686901 |
RGD |
Griscelli syndrome type 1
|
| G |
Myo5a |
myosin VA |
|
|
ISS |
8 |
79,909,224 |
80,027,290 |
RGD:7240710 |
OMIM |
Griscelli syndrome type 2
|
| G |
Rab27a |
RAB27A, member RAS oncogene family |
|
|
ISS |
8 |
77,798,830 |
77,861,090 |
RGD:7240710 |
OMIM |
Griscelli syndrome type 3
|
| G |
Mlph |
melanophilin |
|
|
ISS |
9 |
90,113,308 |
90,149,114 |
RGD:7240710 |
OMIM |
Groenouw type I corneal dystrophy
|
| G |
Tgfbi |
transforming growth factor, beta induced |
|
|
ISS |
17 |
13,904,882 |
13,935,110 |
RGD:7240710 |
OMIM |
Gyrate Atrophy
|
| G |
Oat |
ornithine aminotransferase |
|
|
ISS |
1 |
192,026,623 |
192,046,404 |
RGD:1600292 |
RGD |
Hay-Wells syndrome
|
| G |
Tp63 |
tumor protein p63 |
|
|
ISS |
11 |
76,900,622 |
77,200,251 |
RGD:7240710 |
OMIM |
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
|
| G |
Jam3 |
junctional adhesion molecule 3 |
|
|
ISS |
8 |
26,697,127 |
26,758,579 |
RGD:7240710 |
OMIM |
Hermanski-Pudlak Syndrome
|
| G |
Ap3b1 |
adaptor-related protein complex 3, beta 1 subunit |
|
|
ISS |
2 |
24,670,078 |
24,872,770 |
RGD:1578409 |
RGD |
| G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
|
|
ISS |
10 |
71,605,791 |
71,610,330 |
RGD:4891476 |
RGD |
| G |
Hps1 |
Hermansky-Pudlak syndrome 1 homolog (human) |
|
|
ISS |
1 |
248,109,643 |
248,134,450 |
RGD:1625056 |
RGD |
| G |
Hps1 |
Hermansky-Pudlak syndrome 1 homolog (human) |
|
|
ISS |
1 |
248,109,643 |
248,134,450 |
RGD:7240710 |
OMIM |
| G |
Hps3 |
Hermansky-Pudlak syndrome 3 homolog (human) |
|
|
ISS |
2 |
105,135,644 |
105,177,925 |
RGD:1599538 |
RGD |
| G |
Hps4 |
Hermansky-Pudlak syndrome 4 |
|
|
ISS |
19 |
14,326,654 |
14,355,770 |
RGD:1599546 |
RGD |
| G |
Hps6 |
Hermansky-Pudlak syndrome 6 |
|
|
ISS |
1 |
251,226,344 |
251,228,953 |
RGD:632833 |
RGD |
| S |
FH |
|
|
|
IAGP |
|
|
|
RGD:1300411 |
RGD |
| S |
TM/Kyo |
tester moriyama rat |
|
|
IAGP |
|
|
|
RGD:1300411 |
RGD |
Hermansky Pudlak syndrome 2
|
| G |
Ap3b1 |
adaptor-related protein complex 3, beta 1 subunit |
|
|
ISS |
2 |
24,670,078 |
24,872,770 |
RGD:7240710 |
OMIM |
Hyaloideoretinal degeneration of Wagner
|
| G |
Vcan |
versican |
|
|
ISS |
2 |
19,712,629 |
19,801,443 |
RGD:7240710 |
OMIM |
Hydrophthalmos
|
| S |
UPL/Ncc |
|
|
|
TAS |
|
|
|
RGD:629571 |
RGD |
Hyperferritinemia, hereditary, with congenital cataracts
|
| G |
Ftl |
ferritin, light polypeptide |
|
|
ISS |
1 |
95,929,248 |
95,931,092 |
RGD:5509864 |
RGD |
| G |
Ftl |
ferritin, light polypeptide |
|
|
ISS |
1 |
95,929,248 |
95,931,092 |
RGD:7240710 |
OMIM |
Hypomagnesemia 5, Renal, with Ocular Involvement
|
| G |
Cldn19 |
claudin 19 |
|
|
ISS |
5 |
139,838,014 |
139,842,711 |
RGD:7240710 |
OMIM |
Ichthyosis follicularis atrichia photophobia syndrome
|
| G |
Mbtps2 |
membrane-bound transcription factor peptidase, site 2 |
|
|
ISS |
X |
58,708,065 |
58,757,022 |
RGD:7240710 |
OMIM |
Inclusion body myopathy, autosomal dominant
|
| G |
Myh2 |
myosin, heavy chain 2, skeletal muscle, adult |
|
|
ISS |
10 |
53,864,777 |
53,891,711 |
RGD:7240710 |
OMIM |
IRIDOGONIODYSGENESIS, TYPE 1
|
| G |
Foxc1 |
forkhead box C1 |
|
|
ISS |
17 |
39,026,186 |
39,030,163 |
RGD:7240710 |
OMIM |
IRIDOGONIODYSGENESIS, TYPE 2
|
| G |
Pitx2 |
paired-like homeodomain 2 |
|
|
ISS |
2 |
226,581,170 |
226,601,319 |
RGD:7240710 |
OMIM |
JALILI SYNDROME
|
| G |
Cnnm4 |
cyclin M4 |
|
|
ISS |
9 |
35,410,644 |
35,448,730 |
RGD:7240710 |
OMIM |
Joubert syndrome 1
|
| G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
|
ISS |
3 |
4,568,909 |
4,582,653 |
RGD:7240710 |
OMIM |
Joubert syndrome 2
|
| G |
Tmem216 |
transmembrane protein 216 |
|
|
ISS |
1 |
213,037,899 |
213,043,019 |
RGD:7240710 |
OMIM |
Joubert syndrome 3
|
| G |
Ahi1 |
Abelson helper integration site 1 |
|
|
ISS |
1 |
16,332,801 |
16,454,055 |
RGD:7240710 |
OMIM |
Joubert syndrome 4
|
| G |
Nphp1 |
nephronophthisis 1 (juvenile) |
|
|
ISS |
3 |
115,263,821 |
115,322,901 |
RGD:7240710 |
OMIM |
Joubert syndrome 5
|
| G |
Cep290 |
centrosomal protein 290 |
|
|
ISS |
7 |
38,138,545 |
38,228,716 |
RGD:7240710 |
OMIM |
Joubert syndrome 6
|
| G |
Tmem67 |
transmembrane protein 67 |
|
|
ISS |
5 |
26,324,625 |
26,377,531 |
RGD:7240710 |
OMIM |
Joubert Syndrome 7
|
| G |
Rpgrip1l |
Rpgrip1-like |
|
|
ISS |
19 |
16,859,114 |
16,952,054 |
RGD:7240710 |
OMIM |
Joubert Syndrome 8
|
| G |
Arl13b |
ADP-ribosylation factor-like 13B |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Juvenile macular degeneration and hypotrichosis
|
| G |
Cdh3 |
cadherin 3 |
|
|
ISS |
19 |
36,343,823 |
36,393,819 |
RGD:7240710 |
OMIM |
Kahrizi Syndrome
|
| G |
Srd5a3 |
steroid 5 alpha-reductase 3 |
|
|
ISS |
14 |
34,318,370 |
34,333,413 |
RGD:7240710 |
OMIM |
Kearns-Sayre Syndrome
|
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:7241824 |
RGD |
Keratitis
|
| G |
Vip |
vasoactive intestinal peptide |
|
|
ISS |
1 |
36,361,513 |
36,369,594 |
RGD:5685380 |
RGD |
Keratitis, hereditary
|
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:7240710 |
OMIM |
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
|
| G |
Gjb2 |
gap junction protein, beta 2 |
|
|
ISS |
15 |
36,153,526 |
36,159,490 |
RGD:7240710 |
OMIM |
Keratoconus
|
| G |
Kera |
keratocan |
|
|
ISS |
7 |
35,121,875 |
35,129,326 |
RGD:1600400 |
RGD |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
ISS |
11 |
29,810,766 |
29,816,342 |
RGD:1581223 |
RGD |
| G |
Vsx1 |
visual system homeobox 1 |
|
|
ISS |
3 |
141,322,816 |
141,330,415 |
RGD:7240710 |
OMIM |
Keratoconus 1
|
| G |
Vsx1 |
visual system homeobox 1 |
|
|
ISS |
3 |
141,322,816 |
141,330,415 |
RGD:7240710 |
OMIM |
Knobloch syndrome
|
| G |
Col18a1 |
collagen, type XVIII, alpha 1 |
|
|
ISS |
20 |
11,920,816 |
11,982,468 |
RGD:7240710 |
OMIM |
Lacrimoauriculodentodigital syndrome
|
| G |
Fgf10 |
fibroblast growth factor 10 |
|
|
ISS |
2 |
50,866,799 |
50,940,319 |
RGD:7240710 |
OMIM |
| G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
|
ISS |
1 |
189,482,975 |
189,589,279 |
RGD:7240710 |
OMIM |
| G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
|
ISS |
14 |
82,683,191 |
82,697,229 |
RGD:7240710 |
OMIM |
Laryngo onycho cutaneous syndrome
|
| G |
Lama3 |
laminin, alpha 3 |
|
|
ISS |
18 |
4,030,463 |
4,121,355 |
RGD:7240710 |
OMIM |
Late-Onset Retinal Degeneration
|
| G |
C1qtnf5 |
C1q and tumor necrosis factor related protein 5 |
|
|
ISS |
8 |
47,089,564 |
47,091,434 |
RGD:7240710 |
OMIM |
Lattice corneal dystrophy type 1
|
| G |
Tgfbi |
transforming growth factor, beta induced |
|
|
ISS |
17 |
13,904,882 |
13,935,110 |
RGD:7240710 |
OMIM |
Leber Congenital Amaurosis
|
| G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
|
ISS |
10 |
58,879,846 |
58,913,985 |
RGD:70801 |
RGD |
| G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
|
ISS |
10 |
58,879,846 |
58,913,985 |
RGD:7240710 |
OMIM |
| G |
Cep290 |
centrosomal protein 290 |
|
|
ISS |
7 |
38,138,545 |
38,228,716 |
RGD:7240710 |
OMIM |
| G |
Gucy2d |
guanylate cyclase 2D, membrane (retina-specific) |
|
|
ISS |
10 |
56,012,236 |
56,027,290 |
RGD:7240710 |
OMIM |
| G |
Impdh1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
|
|
ISS |
4 |
56,075,236 |
56,090,775 |
RGD:7240710 |
OMIM |
| G |
Lca5 |
Leber congenital amaurosis 5 |
|
|
ISS |
8 |
88,464,748 |
88,522,568 |
RGD:7240710 |
OMIM |
| G |
Lrat |
lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) |
|
|
ISS |
2 |
174,636,382 |
174,645,444 |
RGD:7240710 |
OMIM |
| G |
Rdh12 |
retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
|
|
ISS |
6 |
101,982,815 |
101,995,737 |
RGD:7240710 |
OMIM |
| G |
Rpe65 |
retinal pigment epithelium 65 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Spata7 |
spermatogenesis associated 7 |
|
|
ISS |
6 |
122,786,739 |
122,832,181 |
RGD:7240710 |
OMIM |
Leber Congenital Amaurosis 10
|
| G |
Cep290 |
centrosomal protein 290 |
|
|
ISS |
7 |
38,138,545 |
38,228,716 |
RGD:7240710 |
OMIM |
Leber Congenital Amaurosis 13
|
| G |
Rdh12 |
retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
|
|
ISS |
6 |
101,982,815 |
101,995,737 |
RGD:7240710 |
OMIM |
Leber Congenital Amaurosis 14
|
| G |
Lrat |
lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) |
|
|
ISS |
2 |
174,636,382 |
174,645,444 |
RGD:7240710 |
OMIM |
LEBER CONGENITAL AMAUROSIS 15
|
| G |
Tulp1 |
tubby like protein 1 |
|
|
ISS |
20 |
6,592,448 |
6,604,349 |
RGD:7240710 |
OMIM |
Leber Congenital Amaurosis 3
|
| G |
Spata7 |
spermatogenesis associated 7 |
|
|
ISS |
6 |
122,786,739 |
122,832,181 |
RGD:7240710 |
OMIM |
Leber Congenital Amaurosis 4
|
| G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
|
ISS |
10 |
58,879,846 |
58,913,985 |
RGD:7240710 |
OMIM |
Leber congenital amaurosis type 3
|
| G |
Spata7 |
spermatogenesis associated 7 |
|
|
ISS |
6 |
122,786,739 |
122,832,181 |
RGD:7240710 |
OMIM |
Leber congenital amaurosis, type 4
|
| G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
|
ISS |
10 |
58,879,846 |
58,913,985 |
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 |
Macular Degeneration
|
| G |
Abca4 |
ATP-binding cassette, subfamily A (ABC1), member 4 |
|
Susceptibility |
ISS |
2 |
218,712,663 |
218,849,896 |
RGD:1598551 |
RGD |
| G |
Abca4 |
ATP-binding cassette, subfamily A (ABC1), member 4 |
|
|
ISS |
2 |
218,712,663 |
218,849,896 |
RGD:7240710 |
OMIM |
| G |
Apoe |
apolipoprotein E |
|
|
IEA |
1 |
79,003,634 |
79,006,387 |
RGD:1331525 |
RGD |
| G |
Apoe |
apolipoprotein E |
|
|
ISS |
1 |
79,003,634 |
79,006,387 |
RGD:7240710 |
OMIM |
| G |
Best1 |
bestrophin 1 |
|
|
ISS |
1 |
212,432,811 |
212,449,374 |
RGD:1599738 |
RGD |
| G |
C2 |
complement component 2 |
|
Susceptibility |
ISS |
20 |
4,051,146 |
4,071,909 |
RGD:1600582 |
RGD |
| G |
C2 |
complement component 2 |
|
|
ISS |
20 |
4,051,146 |
4,071,909 |
RGD:7240710 |
OMIM |
| G |
C3 |
complement component 3 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Cd36 |
CD36 molecule (thrombospondin receptor) |
|
|
IAGP |
4 |
13,471,878 |
13,525,620 |
RGD:2307226 |
RGD |
| G |
Cfb |
complement factor B |
|
|
ISS |
20 |
4,072,124 |
4,077,802 |
RGD:7240710 |
OMIM |
| G |
Cfh |
complement factor H |
|
|
ISS |
13 |
53,252,249 |
53,355,987 |
RGD:5684552 |
RGD |
| G |
Cfh |
complement factor H |
|
|
ISS |
13 |
53,252,249 |
53,355,987 |
RGD:7240710 |
OMIM |
| G |
Cfhr1 |
complement factor H-related 1 |
|
|
ISS |
13 |
53,135,397 |
53,150,381 |
RGD:7240710 |
OMIM |
| G |
Cst3 |
cystatin C |
|
|
ISS |
3 |
137,650,903 |
137,654,776 |
RGD:7240710 |
OMIM |
| G |
Ercc6 |
excision repair cross-complementing rodent repair deficiency, complementation group 6 |
|
|
ISS |
16 |
8,024,881 |
8,091,587 |
RGD:7240710 |
OMIM |
| G |
Fbln5 |
fibulin 5 |
|
|
ISS |
6 |
126,018,541 |
126,098,234 |
RGD:7240710 |
OMIM |
| G |
Flt1 |
FMS-related tyrosine kinase 1 |
|
|
ISS |
12 |
7,858,092 |
8,035,966 |
RGD:5684426 |
RGD |
| G |
Hmcn1 |
hemicentin 1 |
|
|
ISS |
13 |
65,296,682 |
65,779,372 |
RGD:7240710 |
OMIM |
| G |
Hspa8 |
heat shock 70kDa protein 8 |
|
|
ISS |
8 |
43,784,035 |
43,787,760 |
RGD:6478714 |
RGD |
| G |
Htra1 |
HtrA serine peptidase 1 |
|
|
ISS |
1 |
190,257,899 |
190,308,325 |
RGD:7240710 |
OMIM |
| G |
Kdr |
kinase insert domain receptor |
|
|
ISS |
|
|
|
RGD:5684426 |
RGD |
| G |
Mt-nd4 |
mitochondrially encoded NADH dehydrogenase 4 |
|
|
ISS |
MT |
10,160 |
11,537 |
RGD:5508704 |
RGD |
| G |
Plekha1 |
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 |
|
|
ISS |
1 |
190,187,202 |
190,238,309 |
RGD:7240710 |
OMIM |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:7241840 |
RGD |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
ISS |
11 |
29,810,766 |
29,816,342 |
RGD:1581207 |
RGD |
| G |
Tlr4 |
toll-like receptor 4 |
|
|
ISS |
5 |
83,564,100 |
83,577,735 |
RGD:7240710 |
OMIM |
Macular Degeneration, Age-Related, 1
|
| G |
Apoe |
apolipoprotein E |
|
|
ISS |
1 |
79,003,634 |
79,006,387 |
RGD:7240710 |
OMIM |
| G |
C2 |
complement component 2 |
|
|
ISS |
20 |
4,051,146 |
4,071,909 |
RGD:7240710 |
OMIM |
| G |
Cfb |
complement factor B |
|
|
ISS |
20 |
4,072,124 |
4,077,802 |
RGD:7240710 |
OMIM |
| G |
Cfhr1 |
complement factor H-related 1 |
|
|
ISS |
13 |
53,135,397 |
53,150,381 |
RGD:7240710 |
OMIM |
| G |
Hmcn1 |
hemicentin 1 |
|
|
ISS |
13 |
65,296,682 |
65,779,372 |
RGD:7240710 |
OMIM |
| G |
Plekha1 |
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 |
|
|
ISS |
1 |
190,187,202 |
190,238,309 |
RGD:7240710 |
OMIM |
Macular Degeneration, Age-Related, 10
|
| G |
Tlr4 |
toll-like receptor 4 |
|
|
ISS |
5 |
83,564,100 |
83,577,735 |
RGD:7240710 |
OMIM |
Macular Degeneration, Age-Related, 11
|
| G |
Cst3 |
cystatin C |
|
|
ISS |
3 |
137,650,903 |
137,654,776 |
RGD:7240710 |
OMIM |
Macular Degeneration, Age-Related, 2
|
| G |
Abca4 |
ATP-binding cassette, subfamily A (ABC1), member 4 |
|
|
ISS |
2 |
218,712,663 |
218,849,896 |
RGD:7240710 |
OMIM |
Macular Degeneration, Age-Related, 3
|
| G |
Fbln5 |
fibulin 5 |
|
|
ISS |
6 |
126,018,541 |
126,098,234 |
RGD:7240710 |
OMIM |
Macular Degeneration, Age-Related, 4
|
| G |
Cfh |
complement factor H |
|
|
ISS |
13 |
53,252,249 |
53,355,987 |
RGD:7240710 |
OMIM |
Macular Degeneration, Age-Related, 7
|
| G |
Htra1 |
HtrA serine peptidase 1 |
|
|
ISS |
1 |
190,257,899 |
190,308,325 |
RGD:7240710 |
OMIM |
Macular Degeneration, Age-Related, 9
|
| G |
C3 |
complement component 3 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Macular Dystrophy, Retinal, 2
|
| G |
Prom1 |
prominin 1 |
|
|
ISS |
14 |
72,122,986 |
72,230,453 |
RGD:7240710 |
OMIM |
MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET
|
| G |
Best1 |
bestrophin 1 |
|
|
ISS |
1 |
212,432,811 |
212,449,374 |
RGD:7240710 |
OMIM |
| G |
Prph |
peripherin |
|
|
ISS |
7 |
137,836,152 |
137,839,931 |
RGD:7240710 |
OMIM |
| G |
Prph2 |
peripherin 2 |
|
|
ISS |
9 |
9,251,024 |
9,272,513 |
RGD:7240710 |
OMIM |
Macular Edema
|
| G |
Ccl2 |
chemokine (C-C motif) ligand 2 |
|
Severity |
ISS |
10 |
70,256,263 |
70,258,061 |
RGD:2306981 |
RGD |
Marshall syndrome
|
| G |
Col11a1 |
collagen, type XI, alpha 1 |
|
|
ISS |
2 |
209,996,467 |
210,193,379 |
RGD:7240710 |
OMIM |
MASS syndrome
|
| G |
Fbn1 |
fibrillin 1 |
|
|
ISS |
3 |
112,608,480 |
112,804,118 |
RGD:7240710 |
OMIM |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
|
| G |
Sobp |
sine oculis-binding protein homolog (Drosophila) |
|
|
ISS |
20 |
46,918,487 |
47,079,823 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
| G |
Slc9a6 |
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 |
|
|
ISS |
X |
141,146,237 |
141,201,234 |
RGD:7240710 |
OMIM |
Meretoja syndrome
|
| G |
Gsn |
gelsolin |
|
|
ISS |
3 |
14,360,245 |
14,386,313 |
RGD:7240710 |
OMIM |
Microphthalmia, Isolated 3
|
| G |
Rax |
retina and anterior neural fold homeobox |
|
|
ISS |
18 |
62,567,485 |
62,571,191 |
RGD:7240710 |
OMIM |
Microphthalmia, Isolated 4
|
| G |
Gdf6 |
growth differentiation factor 6 |
|
|
ISS |
5 |
23,739,175 |
23,756,140 |
RGD:7240710 |
OMIM |
MICROPHTHALMIA, ISOLATED 5
|
| G |
Mfrp |
membrane frizzled-related protein |
|
|
ISS |
8 |
47,084,056 |
47,089,218 |
RGD:7240710 |
OMIM |
MICROPHTHALMIA, ISOLATED 6
|
| G |
Prss56 |
protease, serine, 56 |
|
|
ISS |
9 |
85,988,860 |
85,993,978 |
RGD:7240710 |
OMIM |
MICROPHTHALMIA, ISOLATED 7
|
| G |
Gdf3 |
growth differentiation factor 3 |
|
|
ISS |
4 |
159,064,054 |
159,067,854 |
RGD:7240710 |
OMIM |
Microphthalmia, Isolated, with Cataract 2
|
| G |
Six6 |
SIX homeobox 6 |
|
|
ISS |
6 |
95,358,546 |
95,363,526 |
RGD:7240710 |
OMIM |
Microphthalmia, Isolated, with Cataract 4
|
| G |
Cryba4 |
crystallin, beta A4 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Microphthalmia, Isolated, with Coloboma 5
|
| G |
Shh |
sonic hedgehog |
|
|
ISS |
4 |
2,200,504 |
2,209,657 |
RGD:7240710 |
OMIM |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
|
| G |
Gdf3 |
growth differentiation factor 3 |
|
|
ISS |
4 |
159,064,054 |
159,067,854 |
RGD:7240710 |
OMIM |
| G |
Gdf6 |
growth differentiation factor 6 |
|
|
ISS |
5 |
23,739,175 |
23,756,140 |
RGD:7240710 |
OMIM |
Microphthalmia, syndromic 2
|
| G |
Bcor |
BCL6 co-repressor |
|
|
ISS |
X |
22,699,778 |
22,820,234 |
RGD:7240710 |
OMIM |
Microphthalmia, Syndromic 3
|
| G |
Sox2 |
SRY (sex determining region Y)-box 2 |
|
|
ISS |
2 |
120,969,021 |
120,971,430 |
RGD:7240710 |
OMIM |
Microphthalmia, Syndromic 5
|
| G |
Otx2 |
orthodenticle homeobox 2 |
|
|
ISS |
15 |
24,622,851 |
24,632,435 |
RGD:7240710 |
OMIM |
Microphthalmia, Syndromic 6
|
| G |
Bmp4 |
bone morphogenetic protein 4 |
|
|
ISS |
15 |
22,283,171 |
22,286,757 |
RGD:7240710 |
OMIM |
Microphthalmia, syndromic 7
|
| G |
Hccs |
holocytochrome c synthase |
|
|
ISS |
X |
45,617,395 |
45,626,790 |
RGD:7240710 |
OMIM |
MICROPHTHALMIA, SYNDROMIC 9
|
| G |
Stra6 |
stimulated by retinoic acid 6 |
|
|
ISS |
8 |
61,920,772 |
61,939,791 |
RGD:7240710 |
OMIM |
Microphthalmos
|
| G |
Hccs |
holocytochrome c synthase |
|
|
ISS |
X |
45,617,395 |
45,626,790 |
RGD:1600417 |
RGD |
| G |
Sox2 |
SRY (sex determining region Y)-box 2 |
|
|
ISS |
2 |
120,969,021 |
120,971,430 |
RGD:1599088 |
RGD |
| S |
MSUBL |
|
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
| S |
SD-Pax6Sey |
|
|
|
IED |
|
|
|
RGD:1601213 |
RGD |
| S |
UPL/Ncc |
|
|
|
TAS |
|
|
|
RGD:629571 |
RGD |
Minicore Myopathy with External Ophthalmoplegia
|
| G |
Ryr1 |
ryanodine receptor 1 (skeletal) |
|
|
ISS |
1 |
84,116,098 |
84,254,503 |
RGD:7240710 |
OMIM |
Mohr-Tranebjaerg syndrome
|
| G |
Timm8a1 |
translocase of inner mitochondrial membrane 8 homolog a1 (yeast) |
|
|
ISS |
X |
121,993,810 |
121,997,685 |
RGD:7240710 |
OMIM |
MORM syndrome
|
| G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
|
ISS |
3 |
4,568,909 |
4,582,653 |
RGD:7240710 |
OMIM |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
|
| G |
Pomt1 |
protein-O-mannosyltransferase 1 |
|
|
ISS |
3 |
11,348,786 |
11,366,633 |
RGD:7240710 |
OMIM |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
|
| G |
Pomt2 |
protein-O-mannosyltransferase 2 |
|
|
ISS |
6 |
111,242,085 |
111,259,180 |
RGD:7240710 |
OMIM |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
|
| G |
Fktn |
fukutin |
|
|
ISS |
5 |
71,155,051 |
71,208,525 |
RGD:7240710 |
OMIM |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
| G |
Fkrp |
fukutin related protein |
|
|
ISS |
1 |
77,133,884 |
77,139,485 |
RGD:7240710 |
OMIM |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
|
| G |
Large |
like-glycosyltransferase |
|
|
ISS |
19 |
12,043,818 |
12,497,663 |
RGD:7240710 |
OMIM |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
|
| G |
Gfer |
growth factor, augmenter of liver regeneration |
|
|
ISS |
10 |
13,946,311 |
13,948,665 |
RGD:7240710 |
OMIM |
Myopia
|
| G |
Hgf |
hepatocyte growth factor |
|
|
ISS |
4 |
14,864,357 |
14,932,513 |
RGD:1642706 |
RGD |
Nance-Horan syndrome
|
| G |
Nhs |
Nance-Horan syndrome (congenital cataracts and dental anomalies) |
|
|
ISS |
X |
53,321,827 |
53,720,326 |
RGD:7240710 |
OMIM |
Nanophthalmos 2
|
| G |
Mfrp |
membrane frizzled-related protein |
|
|
ISS |
8 |
47,084,056 |
47,089,218 |
RGD:7240710 |
OMIM |
Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities
|
| G |
Mmp1 |
matrix metallopeptidase 1 (interstitial collagenase) |
|
|
ISS |
8 |
4,333,773 |
4,354,284 |
RGD:7207147 |
RGD |
Neuropathy ataxia and retinis pigmentosa
|
| G |
Mt-atp6 |
mitochondrially encoded ATP synthase 6 |
|
|
ISS |
MT |
7,919 |
8,599 |
RGD:5490266 |
RGD |
Newfoundland Rod-Cone Dystrophy
|
| G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
|
ISS |
1 |
135,122,063 |
135,135,420 |
RGD:7240710 |
OMIM |
Night Blindness
|
| G |
Cacna1f |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
|
|
ISS |
X |
26,908,850 |
26,937,165 |
RGD:734671 |
RGD |
| G |
Gnat1 |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 |
|
|
ISS |
8 |
112,925,418 |
112,930,154 |
RGD:1599006 |
RGD |
| G |
Grk1 |
G protein-coupled receptor kinase 1 |
|
|
ISS |
16 |
80,979,323 |
80,991,796 |
RGD:1600000 |
RGD |
| G |
Nyx |
nyctalopin |
|
Susceptibility |
ISS |
X |
21,293,033 |
21,314,069 |
RGD:1601021 |
RGD |
| G |
Pde6b |
phosphodiesterase 6B, cGMP-specific, rod, beta |
|
|
ISS |
14 |
1,871,037 |
1,914,170 |
RGD:704404 |
RGD |
| G |
Rbp4 |
retinol binding protein 4, plasma |
|
|
ISS |
1 |
242,443,795 |
242,450,997 |
RGD:7240710 |
OMIM |
| G |
Rdh5 |
retinol dehydrogenase 5 (11-cis/9-cis) |
|
|
ISS |
7 |
2,212,121 |
2,217,394 |
RGD:1599416 |
RGD |
| G |
Rho |
rhodopsin |
|
|
ISS |
4 |
152,057,788 |
152,062,950 |
RGD:1601620 |
RGD |
| G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
|
ISS |
1 |
135,122,063 |
135,135,420 |
RGD:1599620 |
RGD |
| G |
Sag |
S-antigen; retina and pineal gland (arrestin) |
|
|
ISS |
9 |
86,759,933 |
86,799,902 |
RGD:7240710 |
OMIM |
Night blindness, congenital stationary
|
| G |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
|
|
ISS |
1 |
118,583,516 |
118,700,653 |
RGD:7175555 |
RGD |
| G |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
|
|
ISS |
1 |
118,583,516 |
118,700,653 |
RGD:7183085 |
RGD |
| G |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
|
|
ISS |
1 |
118,583,516 |
118,700,653 |
RGD:7183084 |
RGD |
| G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
|
|
ISS |
10 |
60,126,243 |
60,171,718 |
RGD:7175555 |
RGD |
Night Blindness, Congenital Stationary, Autosomal Dominant 1
|
| G |
Rho |
rhodopsin |
|
|
ISS |
4 |
152,057,788 |
152,062,950 |
RGD:7240710 |
OMIM |
Night Blindness, Congenital Stationary, Autosomal Dominant 2
|
| G |
Pde6b |
phosphodiesterase 6B, cGMP-specific, rod, beta |
|
|
ISS |
14 |
1,871,037 |
1,914,170 |
RGD:7240710 |
OMIM |
Night Blindness, Congenital Stationary, Autosomal Dominant 3
|
| G |
Gnat1 |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 |
|
|
ISS |
8 |
112,925,418 |
112,930,154 |
RGD:7240710 |
OMIM |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
|
| G |
Nyx |
nyctalopin |
|
|
ISS |
X |
21,293,033 |
21,314,069 |
RGD:7240710 |
OMIM |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
|
| G |
Grm6 |
glutamate receptor, metabotropic 6 |
|
|
ISS |
10 |
36,421,806 |
36,436,909 |
RGD:7240710 |
OMIM |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
| G |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
|
|
ISS |
1 |
118,583,516 |
118,700,653 |
RGD:7240710 |
OMIM |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
| G |
Cacna1f |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
|
|
ISS |
X |
26,908,850 |
26,937,165 |
RGD:7240710 |
OMIM |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B
|
| G |
Cabp4 |
calcium binding protein 4 |
|
|
ISS |
1 |
206,718,302 |
206,722,801 |
RGD:7240710 |
OMIM |
Norrie disease
|
| G |
Ndp |
Norrie disease (pseudoglioma) |
|
|
ISS |
X |
17,416,946 |
17,441,393 |
RGD:7240710 |
OMIM |
Nystagmus 1, congenital, X- linked
|
| G |
Frmd7 |
FERM domain containing 7 |
|
|
ISS |
X |
137,630,930 |
137,651,419 |
RGD:7240710 |
OMIM |
NYSTAGMUS 6, CONGENITAL, X-LINKED
|
| G |
Gpr143 |
G protein-coupled receptor 143 |
|
|
ISS |
X |
42,481,440 |
42,506,239 |
RGD:7240710 |
OMIM |
Ocular Albinism type 1
|
| G |
Gpr143 |
G protein-coupled receptor 143 |
|
|
ISS |
X |
42,481,440 |
42,506,239 |
RGD:7240710 |
OMIM |
Ocular Hypertension
|
| G |
Acsm3 |
acyl-CoA synthetase medium-chain family member 3 |
|
|
IEP |
1 |
178,054,386 |
178,081,751 |
RGD:1601004 |
RGD |
| G |
Bcl2l1 |
Bcl2-like 1 |
|
|
IEP |
3 |
143,129,087 |
143,180,199 |
RGD:1643493 |
RGD |
| G |
C1qb |
complement component 1, q subcomponent, B chain |
|
|
IEP |
5 |
155,647,524 |
155,653,074 |
RGD:1599509 |
RGD |
| G |
C3 |
complement component 3 |
|
|
IEP |
|
|
|
RGD:1599509 |
RGD |
| G |
Cryaa |
crystallin, alpha A |
|
|
IEP |
|
|
|
RGD:2303613 |
RGD |
| G |
Cryba1 |
crystallin, beta A1 |
|
|
IAGP |
10 |
63,758,929 |
63,765,451 |
RGD:1601004 |
RGD |
| G |
Fas |
Fas cell surface death receptor |
|
|
IEP |
1 |
238,259,443 |
238,274,745 |
RGD:1600312 |
RGD |
| G |
Mmp2 |
matrix metallopeptidase 2 |
|
|
IEP |
19 |
15,246,036 |
15,275,061 |
RGD:2325732 |
RGD |
| G |
Mmp9 |
matrix metallopeptidase 9 |
|
|
IEP |
3 |
155,985,473 |
155,993,433 |
RGD:2325732 |
RGD |
| G |
Smo |
smoothened, frizzled family receptor |
|
|
IEP |
4 |
56,623,494 |
56,645,571 |
RGD:2324982 |
RGD |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
IEP |
11 |
29,810,766 |
29,816,342 |
RGD:2303613 |
RGD |
Oculoauricular Syndrome
|
| G |
Hmx1 |
H6 family homeobox 1 |
|
|
ISS |
14 |
80,995,410 |
80,999,166 |
RGD:7240710 |
OMIM |
Oculocutaneous albinism type 1
|
| G |
Tyr |
tyrosinase |
|
|
ISS |
1 |
143,641,257 |
143,746,315 |
RGD:7240710 |
OMIM |
Oculocutaneous albinism type 1B
|
| G |
Tyr |
tyrosinase |
|
|
ISS |
1 |
143,641,257 |
143,746,315 |
RGD:7240710 |
OMIM |
Oculocutaneous albinism type 3
|
| G |
Tyrp1 |
tyrosinase-related protein 1 |
|
|
ISS |
5 |
99,518,306 |
99,537,289 |
RGD:7240710 |
OMIM |
Oculocutaneous Albinism, Type IV
|
| G |
Aim1 |
absent in melanoma 1 |
|
|
ISS |
20 |
47,861,952 |
47,926,975 |
RGD:7240710 |
OMIM |
| G |
Slc45a2 |
solute carrier family 45, member 2 |
|
|
ISS |
2 |
60,349,773 |
60,383,838 |
RGD:7240710 |
OMIM |
Oculodentodigital Dysplasia
|
| G |
Gja1 |
gap junction protein, alpha 1 |
|
|
ISS |
20 |
35,409,815 |
35,422,262 |
RGD:7240710 |
OMIM |
Oculodentodigital Dysplasia, Autosomal Recessive
|
| G |
Gja1 |
gap junction protein, alpha 1 |
|
|
ISS |
20 |
35,409,815 |
35,422,262 |
RGD:7240710 |
OMIM |
Oculomotor Nerve Injuries
|
| G |
Ntrk2 |
neurotrophic tyrosine kinase, receptor, type 2 |
|
|
IEP |
17 |
11,494,463 |
11,811,654 |
RGD:5684341 |
RGD |
Oguchi disease
|
| G |
Grk1 |
G protein-coupled receptor kinase 1 |
|
|
ISS |
16 |
80,979,323 |
80,991,796 |
RGD:7240710 |
OMIM |
| G |
Sag |
S-antigen; retina and pineal gland (arrestin) |
|
|
ISS |
9 |
86,759,933 |
86,799,902 |
RGD:7240710 |
OMIM |
Ophthalmoplegia
|
| G |
Kif21a |
kinesin family member 21A |
|
|
ISS |
7 |
129,337,712 |
129,456,728 |
RGD:1600402 |
RGD |
Ophthalmoplegia, Chronic Progressive External
|
| G |
Peo1 |
progressive external ophthalmoplegia 1 |
|
Susceptibility |
ISS |
1 |
250,073,350 |
250,079,743 |
RGD:1600544 |
RGD |
| G |
Polg |
polymerase (DNA directed), gamma |
|
|
ISS |
1 |
135,197,075 |
135,212,178 |
RGD:737726 |
RGD |
| G |
Slc25a4 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
|
|
ISS |
16 |
49,353,476 |
49,357,271 |
RGD:1580620 |
RGD |
| G |
Slc25a4 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
|
|
ISS |
16 |
49,353,476 |
49,357,271 |
RGD:1580622 |
RGD |
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 |
Ornithine aminotransferase deficiency
|
| G |
Oat |
ornithine aminotransferase |
|
|
ISS |
1 |
192,026,623 |
192,046,404 |
RGD:7240710 |
OMIM |
Papillorenal syndrome
|
| G |
Pax2 |
paired box 2 |
|
|
ISS |
1 |
249,804,055 |
249,895,306 |
RGD:7240710 |
OMIM |
Patterned dystrophy of retinal pigment epithelium
|
| G |
Prph |
peripherin |
|
|
ISS |
7 |
137,836,152 |
137,839,931 |
RGD:7240710 |
OMIM |
| G |
Prph2 |
peripherin 2 |
|
|
ISS |
9 |
9,251,024 |
9,272,513 |
RGD:7240710 |
OMIM |
Peters anomaly
|
| G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
|
ISS |
6 |
2,548,224 |
2,553,767 |
RGD:7240710 |
OMIM |
| G |
Pax6 |
paired box 6 |
|
|
ISS |
3 |
91,127,605 |
91,149,178 |
RGD:7240710 |
OMIM |
| G |
Pitx2 |
paired-like homeodomain 2 |
|
|
ISS |
2 |
226,581,170 |
226,601,319 |
RGD:7240710 |
OMIM |
Piebaldism
|
| G |
Kit |
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog |
|
|
ISS |
14 |
34,906,043 |
34,984,819 |
RGD:1600045 |
RGD |
| G |
Kit |
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog |
|
|
ISS |
14 |
34,906,043 |
34,984,819 |
RGD:7240710 |
OMIM |
| G |
Snai2 |
snail family zinc finger 2 |
|
Susceptibility |
ISS |
|
|
|
RGD:1600041 |
RGD |
| G |
Snai2 |
snail family zinc finger 2 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Pierson syndrome
|
| G |
Lamb2 |
laminin, beta 2 |
|
|
ISS |
|
|
|
RGD:7207425 |
RGD |
| G |
Lamb2 |
laminin, beta 2 |
|
|
ISS |
|
|
|
RGD:7207425 |
RGD |
| G |
Lamb2 |
laminin, beta 2 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Pigmented Paravenous Chorioretinal Atrophy
|
| G |
Crb1 |
crumbs homolog 1 (Drosophila) |
|
|
ISS |
13 |
52,558,317 |
52,725,099 |
RGD:7240710 |
OMIM |
Plasminogen Deficiency, Type I
|
| G |
Plg |
plasminogen |
|
|
ISS |
1 |
42,782,464 |
42,825,149 |
RGD:7240710 |
OMIM |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
| G |
Abhd12 |
abhydrolase domain containing 12 |
|
|
ISS |
3 |
141,468,888 |
141,530,219 |
RGD:7240710 |
OMIM |
Popliteal Pterygium Syndrome
|
| G |
Irf6 |
interferon regulatory factor 6 |
|
|
ISS |
13 |
108,986,973 |
109,006,180 |
RGD:7240710 |
OMIM |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
| G |
Polg |
polymerase (DNA directed), gamma |
|
|
ISS |
1 |
135,197,075 |
135,212,178 |
RGD:7240710 |
OMIM |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
|
| G |
Slc25a4 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
|
|
ISS |
16 |
49,353,476 |
49,357,271 |
RGD:7240710 |
OMIM |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
|
| G |
Peo1 |
progressive external ophthalmoplegia 1 |
|
|
ISS |
1 |
250,073,350 |
250,079,743 |
RGD:7240710 |
OMIM |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
|
| G |
Polg2 |
polymerase (DNA directed), gamma 2, accessory subunit |
|
|
ISS |
10 |
96,120,205 |
96,130,221 |
RGD:7240710 |
OMIM |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
|
| G |
Rrm2b |
ribonucleotide reductase M2 B (TP53 inducible) |
|
|
ISS |
7 |
73,432,161 |
73,459,541 |
RGD:7240710 |
OMIM |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
|
| G |
Polg |
polymerase (DNA directed), gamma |
|
|
ISS |
1 |
135,197,075 |
135,212,178 |
RGD:7240710 |
OMIM |
Progressive supranuclear palsy atypical
|
| G |
Mapt |
microtubule-associated protein tau |
|
|
ISS |
10 |
93,411,098 |
93,508,762 |
RGD:7240710 |
OMIM |
Prolonged Electroretinal Response Suppression
|
| G |
Rgs9 |
regulator of G-protein signaling 9 |
|
|
ISS |
10 |
98,598,326 |
98,647,948 |
RGD:7240710 |
OMIM |
| G |
Rgs9bp |
regulator of G protein signaling 9 binding protein |
|
|
ISS |
1 |
88,115,883 |
88,116,596 |
RGD:7240710 |
OMIM |
Propping Zerres syndrome
|
| G |
Tp63 |
tumor protein p63 |
|
|
ISS |
11 |
76,900,622 |
77,200,251 |
RGD:7240710 |
OMIM |
Pterygium
|
| G |
Pecam1 |
platelet/endothelial cell adhesion molecule 1 |
|
|
ISS |
10 |
96,056,220 |
96,057,232 |
RGD:6771360 |
RGD |
Raine syndrome
|
| G |
Fam20c |
family with sequence similarity 20, member C |
|
|
ISS |
12 |
16,340,407 |
16,399,325 |
RGD:7240710 |
OMIM |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
| G |
Slc4a4 |
solute carrier family 4, sodium bicarbonate cotransporter, member 4 |
|
|
ISS |
14 |
20,381,545 |
20,739,216 |
RGD:7240710 |
OMIM |
| G |
Slc4a5 |
solute carrier family 4, sodium bicarbonate cotransporter, member 5 |
|
|
ISS |
4 |
117,432,385 |
117,515,453 |
RGD:7240710 |
OMIM |
Retinal Artery Occlusion
|
| G |
F5 |
coagulation factor V (proaccelerin, labile factor) |
|
No_Association |
ISS |
13 |
79,934,956 |
79,997,285 |
RGD:1580362 |
RGD |
Retinal cone dystrophy 2
|
| G |
Gucy2d |
guanylate cyclase 2D, membrane (retina-specific) |
|
|
ISS |
10 |
56,012,236 |
56,027,290 |
RGD:7240710 |
OMIM |
Retinal Cone Dystrophy 3A
|
| G |
Pde6h |
phosphodiesterase 6H, cGMP-specific, cone, gamma |
|
|
ISS |
4 |
174,009,860 |
174,014,405 |
RGD:7240710 |
OMIM |
Retinal Cone Dystrophy 3B
|
| G |
Kcnv2 |
potassium channel, subfamily V, member 2 |
|
|
ISS |
1 |
230,834,883 |
230,849,285 |
RGD:7240710 |
OMIM |
Retinal Cone Dystrophy 4
|
| G |
Cacna2d4 |
calcium channel, voltage-dependent, alpha 2/delta subunit 4 |
|
|
ISS |
4 |
155,546,301 |
155,658,429 |
RGD:7240710 |
OMIM |
Retinal Degeneration
|
| G |
Bcl2 |
B-cell CLL/lymphoma 2 |
|
|
ISS |
13 |
12,730,736 |
12,905,108 |
RGD:7240710 |
OMIM |
| G |
Ccl7 |
chemokine (C-C motif) ligand 7 |
|
|
ISS |
10 |
70,267,281 |
70,269,131 |
RGD:6483781 |
RGD |
| G |
Clcn3 |
chloride channel, voltage-sensitive 3 |
|
|
ISS |
16 |
32,447,259 |
32,518,533 |
RGD:734783 |
RGD |
| G |
Clcn7 |
chloride channel, voltage-sensitive 7 |
|
|
ISS |
10 |
14,379,803 |
14,403,898 |
RGD:737783 |
RGD |
| G |
Crb1 |
crumbs homolog 1 (Drosophila) |
|
|
ISS |
13 |
52,558,317 |
52,725,099 |
RGD:7240710 |
OMIM |
| G |
Crx |
cone-rod homeobox |
|
|
ISS |
1 |
76,190,656 |
76,196,333 |
RGD:7240710 |
OMIM |
| G |
Crygc |
crystallin, gamma C |
|
|
IED |
9 |
63,720,585 |
63,722,620 |
RGD:2317932 |
RGD |
| G |
Impdh1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
|
|
ISS |
4 |
56,075,236 |
56,090,775 |
RGD:5144136 |
RGD |
| G |
Impdh1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
|
|
ISS |
4 |
56,075,236 |
56,090,775 |
RGD:5144221 |
RGD |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480507 |
RGD |
| S |
OM/N |
Osborne-Mendel |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
| S |
SD-Tg(S334ter)3LavRrrc |
|
|
|
TAS |
|
|
|
RGD:2292495 |
RGD |
| S |
WAG |
|
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
Retinal Detachment
|
| G |
Apoa4 |
apolipoprotein A-IV |
|
|
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5685692 |
RGD |
| G |
Col2a1 |
collagen, type II, alpha 1 |
|
|
ISS |
7 |
136,679,219 |
136,707,976 |
RGD:7240710 |
OMIM |
| G |
Fas |
Fas cell surface death receptor |
|
|
IEP |
1 |
238,259,443 |
238,274,745 |
RGD:1600357 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
IEP |
2 |
179,838,740 |
179,855,545 |
RGD:5684405 |
RGD |
| G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
|
|
ISS |
5 |
163,666,541 |
163,697,484 |
RGD:5131257 |
RGD |
Retinal Diseases
|
| G |
Acvr2b |
activin A receptor, type IIB |
|
|
ISS |
8 |
124,364,330 |
124,395,748 |
RGD:1300351 |
RGD |
| G |
Aqp4 |
aquaporin 4 |
|
|
IEP |
18 |
6,626,313 |
6,642,766 |
RGD:5490154 |
RGD |
| G |
Casp3 |
caspase 3 |
|
|
IEP |
16 |
48,944,226 |
48,962,420 |
RGD:5490154 |
RGD |
| G |
Ccnd1 |
cyclin D1 |
|
|
ISS |
1 |
205,357,235 |
205,366,757 |
RGD:704404 |
RGD |
| G |
Col9a1 |
collagen, type IX, alpha 1 |
|
|
ISS |
9 |
22,907,157 |
22,990,836 |
RGD:7240710 |
OMIM |
| G |
Efemp1 |
EGF-containing fibulin-like extracellular matrix protein 1 |
|
|
ISS |
14 |
109,733,625 |
109,828,630 |
RGD:1598888 |
RGD |
| G |
Epas1 |
endothelial PAS domain protein 1 |
|
|
ISS |
6 |
10,203,108 |
10,297,215 |
RGD:734934 |
RGD |
| G |
Fzd4 |
frizzled family receptor 4 |
|
|
ISS |
1 |
145,953,743 |
145,957,666 |
RGD:1598999 |
RGD |
| G |
Gfap |
glial fibrillary acidic protein |
|
|
IEP |
10 |
92,059,881 |
92,068,555 |
RGD:5490154 |
RGD |
| G |
Grk1 |
G protein-coupled receptor kinase 1 |
|
|
IEP |
16 |
80,979,323 |
80,991,796 |
RGD:1600004 |
RGD |
| G |
Thy1 |
Thy-1 cell surface antigen |
|
|
IEP |
8 |
47,027,721 |
47,031,857 |
RGD:5490154 |
RGD |
| G |
Uchl1 |
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) |
|
|
IEP |
14 |
44,114,392 |
44,124,947 |
RGD:5490154 |
RGD |
| G |
Vcan |
versican |
|
|
ISS |
2 |
19,712,629 |
19,801,443 |
RGD:1598496 |
RGD |
| G |
Vsx1 |
visual system homeobox 1 |
|
|
ISS |
3 |
141,322,816 |
141,330,415 |
RGD:7240710 |
OMIM |
| S |
WF |
Wistar Furth |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
Retinal Neovascularization
|
| G |
Epha2 |
Eph receptor A2 |
|
|
IED |
5 |
160,185,143 |
160,214,727 |
RGD:1580975 |
RGD |
| G |
Itgav |
integrin, alpha V |
|
|
ISS |
3 |
66,953,403 |
67,029,774 |
RGD:1582452 |
RGD |
| G |
Lrp1 |
low density lipoprotein receptor-related protein 1 |
|
|
IEP |
7 |
67,520,575 |
67,601,549 |
RGD:1625022 |
RGD |
| G |
Vegfa |
vascular endothelial growth factor A |
|
|
IED |
9 |
10,520,730 |
10,536,071 |
RGD:1580564 |
RGD |
| G |
Vegfb |
vascular endothelial growth factor B |
|
|
ISS |
1 |
209,657,632 |
209,661,271 |
RGD:2314323 |
RGD |
Retinal Vein Occlusion
|
| G |
Aqp1 |
aquaporin 1 |
|
|
IEP |
4 |
84,098,346 |
84,110,524 |
RGD:5490120 |
RGD |
| G |
Aqp4 |
aquaporin 4 |
|
|
IEP |
18 |
6,626,313 |
6,642,766 |
RGD:5490120 |
RGD |
| G |
Il1b |
interleukin 1 beta |
|
|
IEP |
3 |
116,964,422 |
116,970,867 |
RGD:5490120 |
RGD |
| G |
Il6 |
interleukin 6 |
|
|
IEP |
4 |
456,799 |
461,376 |
RGD:5490120 |
RGD |
| G |
Itga2 |
integrin, alpha 2 |
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