ONTOLOGY REPORT - ANNOTATIONS
| Term: | Metabolic Diseases |
|
| Accession: | RDO:0003148
|
browse the term
|
| Definition: | Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) |
| Synonyms: | exact_synonym: | Metabolic Disease; Thesaurismoses; Thesaurismosis |
| | primary_id: | MESH:D008659 |
|
|
Metabolic Diseases
|
| G |
Adrb2 |
adrenoceptor beta 2, surface |
|
Susceptibility |
ISS |
18 |
58,174,958 |
58,177,000 |
RGD:1601124 |
RGD |
| G |
Baat |
bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) |
|
Susceptibility |
ISS |
5 |
66,245,786 |
66,254,757 |
RGD:734629 |
RGD |
| G |
Ephx1 |
epoxide hydrolase 1, microsomal (xenobiotic) |
|
|
ISS |
13 |
96,722,973 |
96,752,940 |
RGD:1601066 |
RGD |
| G |
Hspa8 |
heat shock 70kDa protein 8 |
|
|
IEP |
8 |
43,784,035 |
43,787,760 |
RGD:4142786 |
RGD |
| G |
Mgat2 |
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase |
|
|
ISS |
6 |
91,137,262 |
91,139,751 |
RGD:1599932 |
RGD |
| G |
Mgat2 |
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase |
|
|
ISS |
6 |
91,137,262 |
91,139,751 |
RGD:1599930 |
RGD |
| G |
Nbn |
nibrin |
|
|
ISS |
5 |
30,541,610 |
30,576,168 |
RGD:1600219 |
RGD |
| G |
Slc2a1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
|
|
ISS |
5 |
139,690,801 |
139,719,021 |
RGD:1624245 |
RGD |
| G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
|
ISS |
10 |
46,461,684 |
46,483,646 |
RGD:1581420 |
RGD |
| G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
Susceptibility |
ISS |
10 |
46,461,684 |
46,483,646 |
RGD:2308809 |
RGD |
| G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
|
|
ISS |
7 |
120,522,511 |
120,580,212 |
RGD:1581420 |
RGD |
| G |
Tjp2 |
tight junction protein 2 |
|
Susceptibility |
ISS |
1 |
227,475,386 |
227,574,457 |
RGD:734629 |
RGD |
| Q |
Spl3 |
Serum phospholipid level QTL 3 |
|
|
IAGP |
18 |
32,459,145 |
80,370,367 |
RGD:61055 |
RGD |
17-Hydroxysteroid Dehydrogenase Deficiency
|
| G |
Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
|
|
ISS |
17 |
6,554,164 |
6,585,525 |
RGD:7240710 |
OMIM |
2-Methylbutyryl-Coa Dehydrogenase Deficiency
|
| G |
Acadsb |
acyl-CoA dehydrogenase, short/branched chain |
|
|
ISS |
1 |
190,987,657 |
191,026,275 |
RGD:7240710 |
OMIM |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
| G |
Mccc1 |
methylcrotonoyl-CoA carboxylase 1 (alpha) |
|
|
ISS |
2 |
122,416,660 |
122,469,557 |
RGD:7240710 |
OMIM |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
| G |
Mccc2 |
methylcrotonoyl-CoA carboxylase 2 (beta) |
|
|
ISS |
2 |
30,961,607 |
31,032,883 |
RGD:7240710 |
OMIM |
3-Methylglutaconic Aciduria, Type I
|
| G |
Auh |
AU RNA binding protein/enoyl-CoA hydratase |
|
|
ISS |
17 |
18,147,850 |
18,251,863 |
RGD:7240710 |
OMIM |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
| G |
Pts |
6-pyruvoyl-tetrahydropterin synthase |
|
|
ISS |
8 |
53,880,701 |
53,887,711 |
RGD:7240710 |
OMIM |
Abetalipoproteinemia
|
| G |
Mttp |
microsomal triglyceride transfer protein |
|
|
ISS |
2 |
235,613,710 |
235,654,848 |
RGD:1581044 |
RGD |
| G |
Mttp |
microsomal triglyceride transfer protein |
|
|
ISS |
2 |
235,613,710 |
235,654,848 |
RGD:1581043 |
RGD |
| G |
Mttp |
microsomal triglyceride transfer protein |
|
|
ISS |
2 |
235,613,710 |
235,654,848 |
RGD:1581045 |
RGD |
Acatalasia
|
| G |
Cat |
catalase |
|
|
ISS |
3 |
88,654,077 |
88,686,212 |
RGD:1300375 |
RGD |
| G |
Cat |
catalase |
|
|
ISS |
3 |
88,654,077 |
88,686,212 |
RGD:7240710 |
OMIM |
Acidemia, isovaleric
|
| G |
Ivd |
isovaleryl-CoA dehydrogenase |
|
|
ISS |
3 |
105,374,429 |
105,394,861 |
RGD:7240710 |
OMIM |
Acidosis, Renal Tubular
|
| G |
Atp6v0a4 |
ATPase, H+ transporting, lysosomal V0 subunit A4 |
|
Susceptibility |
ISS |
4 |
65,588,970 |
65,671,150 |
RGD:1599383 |
RGD |
| G |
Atp6v1b1 |
ATPase, H transporting, lysosomal V1 subunit B1 |
|
Susceptibility |
ISS |
4 |
117,931,972 |
117,950,626 |
RGD:1599372 |
RGD |
| G |
Ctsb |
cathepsin B |
|
|
IEP |
15 |
42,402,829 |
42,423,701 |
RGD:2315534 |
RGD |
| G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
|
|
IEP |
7 |
113,043,365 |
113,049,779 |
RGD:4891416 |
RGD |
| G |
Slc4a1 |
solute carrier family 4 (anion exchanger), member 1 |
|
|
ISS |
10 |
91,454,824 |
91,471,072 |
RGD:7240710 |
OMIM |
| G |
Slc4a4 |
solute carrier family 4, sodium bicarbonate cotransporter, member 4 |
|
Susceptibility |
ISS |
14 |
20,381,545 |
20,739,216 |
RGD:61794 |
RGD |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
| G |
Acad9 |
acyl-CoA dehydrogenase family, member 9 |
|
|
ISS |
2 |
122,562,974 |
122,585,953 |
RGD:7240710 |
OMIM |
Adenosine monophosphate deaminase deficiency
|
| G |
Ampd1 |
adenosine monophosphate deaminase 1 |
|
|
ISS |
2 |
198,308,512 |
198,331,019 |
RGD:7240710 |
OMIM |
Adenylosuccinate lyase deficiency
|
| G |
Adsl |
adenylosuccinate lyase |
|
|
ISS |
7 |
119,223,582 |
119,248,151 |
RGD:7240710 |
OMIM |
Adrenal hyperplasia 2
|
| G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
|
ISS |
2 |
193,500,916 |
193,507,633 |
RGD:7240710 |
OMIM |
Adrenal Hyperplasia, Congenital
|
| G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
|
ISS |
8 |
61,793,976 |
61,805,308 |
RGD:1599693 |
RGD |
| G |
Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
|
|
ISS |
7 |
112,977,395 |
112,984,080 |
RGD:734864 |
RGD |
| G |
Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
|
|
ISS |
7 |
112,977,395 |
112,984,080 |
RGD:1600799 |
RGD |
| G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
|
|
ISS |
1 |
251,965,458 |
251,971,449 |
RGD:4889141 |
RGD |
| G |
Cyp21a1 |
cytochrome P450, family 21, subfamily a, polypeptide 1 |
|
|
ISS |
20 |
4,125,357 |
4,128,518 |
RGD:4889127 |
RGD |
| G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
|
ISS |
2 |
193,500,916 |
193,507,633 |
RGD:1625113 |
RGD |
| G |
Pde8b |
phosphodiesterase 8B |
|
|
ISS |
2 |
25,352,725 |
25,469,209 |
RGD:7240710 |
OMIM |
| G |
Por |
P450 (cytochrome) oxidoreductase |
|
|
ISS |
12 |
22,078,629 |
22,097,301 |
RGD:4889128 |
RGD |
| G |
Star |
steroidogenic acute regulatory protein |
|
|
ISS |
16 |
70,642,580 |
70,647,203 |
RGD:4145592 |
RGD |
| G |
Star |
steroidogenic acute regulatory protein |
|
Susceptibility |
ISS |
16 |
70,642,580 |
70,647,203 |
RGD:1600070 |
RGD |
| S |
SDT.ZDF-Leprfa/Jtt |
SDT fatty |
|
|
IED |
|
|
|
RGD:2314024 |
RGD |
Adrenal hyperplasia, congenital, type 5
|
| G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
|
|
ISS |
1 |
251,965,458 |
251,971,449 |
RGD:7240710 |
OMIM |
Adrenoleukodystrophy
|
| G |
Abcd1 |
ATP-binding cassette, subfamily D (ALD), member 1 |
|
Susceptibility |
ISS |
X |
159,614,569 |
159,635,963 |
RGD:1598655 |
RGD |
| G |
Abcd1 |
ATP-binding cassette, subfamily D (ALD), member 1 |
|
|
ISS |
X |
159,614,569 |
159,635,963 |
RGD:7240710 |
OMIM |
| G |
Amn |
amnion associated transmembrane protein |
|
|
ISS |
6 |
136,031,478 |
136,038,919 |
RGD:7240710 |
OMIM |
Adult-onset citrullinemia type 2
|
| G |
Slc25a13 |
solute carrier family 25 (aspartate/glutamate carrier), member 13 |
|
|
ISS |
4 |
30,822,456 |
31,006,241 |
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 |
Alexander Disease
|
| G |
Gfap |
glial fibrillary acidic protein |
|
|
ISS |
10 |
92,059,881 |
92,068,555 |
RGD:7240710 |
OMIM |
Alkaptonuria
|
| G |
Hgd |
homogentisate 1, 2-dioxygenase |
|
|
ISS |
11 |
64,876,269 |
64,928,243 |
RGD:1599472 |
RGD |
| G |
Hgd |
homogentisate 1, 2-dioxygenase |
|
|
ISS |
11 |
64,876,269 |
64,928,243 |
RGD:7240710 |
OMIM |
Alpha-ketoglutarate dehydrogenase deficiency
|
| G |
Ogdh |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
|
|
ISS |
14 |
87,022,994 |
87,090,768 |
RGD:7240710 |
OMIM |
alpha-Mannosidosis
|
| G |
Man2b1 |
mannosidase, alpha, class 2B, member 1 |
|
|
ISS |
19 |
24,711,378 |
24,730,659 |
RGD:7240710 |
OMIM |
Amino Acid Metabolism, Inborn Errors
|
| G |
Ahcy |
adenosylhomocysteinase |
|
|
ISS |
3 |
145,544,834 |
145,560,058 |
RGD:7240710 |
OMIM |
| G |
Aldh6a1 |
aldehyde dehydrogenase 6 family, member A1 |
|
|
ISS |
6 |
108,495,781 |
108,516,414 |
RGD:7240710 |
OMIM |
| G |
Asl |
argininosuccinate lyase |
|
|
ISS |
12 |
27,702,882 |
27,720,230 |
RGD:734610 |
RGD |
| G |
Cps1 |
carbamoyl-phosphate synthetase 1 |
|
|
ISS |
9 |
65,907,211 |
66,017,942 |
RGD:1600715 |
RGD |
| G |
Cth |
cystathionase (cystathionine gamma-lyase) |
|
|
ISS |
2 |
256,056,562 |
256,082,248 |
RGD:1600761 |
RGD |
| G |
Gamt |
guanidinoacetate N-methyltransferase |
|
|
ISS |
7 |
10,959,990 |
10,962,720 |
RGD:1601275 |
RGD |
| G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
|
ISS |
8 |
82,724,429 |
82,762,848 |
RGD:7240710 |
OMIM |
| G |
Hmgcl |
3-hydroxymethyl-3-methylglutaryl-CoA lyase |
|
|
ISS |
5 |
154,730,232 |
154,743,974 |
RGD:1599500 |
RGD |
| G |
Ivd |
isovaleryl-CoA dehydrogenase |
|
|
ISS |
3 |
105,374,429 |
105,394,861 |
RGD:1600039 |
RGD |
| G |
Nags |
N-acetylglutamate synthase |
|
|
ISS |
10 |
91,211,490 |
91,215,624 |
RGD:1600560 |
RGD |
| G |
Pcca |
propionyl CoA carboxylase, alpha polypeptide |
|
|
ISS |
15 |
107,659,723 |
108,028,929 |
RGD:1600306 |
RGD |
| G |
Pccb |
propionyl CoA carboxylase, beta polypeptide |
|
|
ISS |
8 |
105,946,482 |
105,996,472 |
RGD:1600331 |
RGD |
| G |
Pepd |
peptidase D |
|
|
ISS |
1 |
87,421,576 |
87,547,908 |
RGD:7240710 |
OMIM |
| G |
Phgdh |
phosphoglycerate dehydrogenase |
|
|
ISS |
2 |
193,147,943 |
193,177,137 |
RGD:1600412 |
RGD |
| G |
Prodh |
proline dehydrogenase (oxidase) 1 |
|
|
ISS |
11 |
84,905,060 |
84,922,229 |
RGD:1599206 |
RGD |
| G |
Slc25a15 |
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 |
|
|
ISS |
16 |
74,280,827 |
74,301,105 |
RGD:1599239 |
RGD |
| G |
Slc25a15 |
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 |
|
|
ISS |
16 |
74,280,827 |
74,301,105 |
RGD:1599240 |
RGD |
| G |
Slc7a7 |
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 |
|
|
ISS |
15 |
32,431,748 |
32,471,526 |
RGD:1624296 |
RGD |
Aminoacylase 1 deficiency
|
| G |
Acy1 |
aminoacylase 1 |
|
|
ISS |
8 |
111,576,888 |
111,581,571 |
RGD:7240710 |
OMIM |
Amyloid Neuropathies, Familial
|
| G |
Ttr |
transthyretin |
|
|
IEA |
18 |
12,406,571 |
12,413,680 |
RGD:1331525 |
RGD |
Amyloidosis IX
|
| G |
Osmr |
oncostatin M receptor |
|
|
ISS |
2 |
56,080,700 |
56,121,463 |
RGD:7240710 |
OMIM |
Amyloidosis, Familial
|
| G |
Apoa1 |
apolipoprotein A-I |
|
|
ISS |
|
|
|
RGD:7241855 |
RGD |
| G |
Cst3 |
cystatin C |
|
|
ISS |
3 |
137,650,903 |
137,654,776 |
RGD:2314354 |
RGD |
| G |
Fga |
fibrinogen alpha chain |
|
|
ISS |
2 |
174,737,640 |
174,753,598 |
RGD:1601166 |
RGD |
| G |
Gsn |
gelsolin |
|
|
ISS |
3 |
14,360,245 |
14,386,313 |
RGD:1599858 |
RGD |
| G |
Lyz2 |
lysozyme 2 |
|
|
ISS |
7 |
56,607,708 |
56,613,004 |
RGD:1599840 |
RGD |
| G |
Lyz2 |
lysozyme 2 |
|
|
ISS |
7 |
56,607,708 |
56,613,004 |
RGD:1599842 |
RGD |
| G |
Ttr |
transthyretin |
|
|
IEA |
18 |
12,406,571 |
12,413,680 |
RGD:1331525 |
RGD |
| G |
Ttr |
transthyretin |
|
|
ISS |
18 |
12,406,571 |
12,413,680 |
RGD:1580526 |
RGD |
Amyloidosis, familial visceral
|
| G |
Apoa1 |
apolipoprotein A-I |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Fga |
fibrinogen alpha chain |
|
|
ISS |
2 |
174,737,640 |
174,753,598 |
RGD:7240710 |
OMIM |
Amyloidosis, Hereditary, Transthyretin-Related
|
| G |
Ttr |
transthyretin |
|
|
ISS |
18 |
12,406,571 |
12,413,680 |
RGD:7240710 |
OMIM |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
|
| G |
Por |
P450 (cytochrome) oxidoreductase |
|
|
ISS |
12 |
22,078,629 |
22,097,301 |
RGD:7240710 |
OMIM |
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
|
| G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
|
ISS |
1 |
189,482,975 |
189,589,279 |
RGD:7240710 |
OMIM |
Arginine:Glycine Amidinotransferase Deficiency
|
| G |
Gatm |
glycine amidinotransferase (L-arginine:glycine amidinotransferase) |
|
|
ISS |
3 |
109,558,043 |
109,565,432 |
RGD:7240710 |
OMIM |
Argininosuccinic Aciduria
|
| G |
Asl |
argininosuccinate lyase |
|
|
ISS |
12 |
27,702,882 |
27,720,230 |
RGD:7240710 |
OMIM |
Aromatase deficiency
|
| G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Aromatic amino acid decarboxylase deficiency
|
| G |
Ddc |
dopa decarboxylase (aromatic L-amino acid decarboxylase) |
|
|
ISS |
14 |
92,698,636 |
92,788,635 |
RGD:7240710 |
OMIM |
Arthritis, Gouty
|
| G |
Mmp3 |
matrix metallopeptidase 3 |
|
|
ISS |
8 |
4,315,601 |
4,329,146 |
RGD:7241254 |
RGD |
Aspartylglucosaminuria
|
| G |
Aga |
aspartylglucosaminidase |
|
|
ISS |
16 |
41,383,536 |
41,395,394 |
RGD:7240710 |
OMIM |
Autosomal dominant distal renal tubular acidosis
|
| G |
Slc4a1 |
solute carrier family 4 (anion exchanger), member 1 |
|
|
ISS |
10 |
91,454,824 |
91,471,072 |
RGD:7240710 |
OMIM |
Barth Syndrome
|
| G |
Taz |
tafazzin |
|
|
ISS |
X |
160,319,389 |
160,326,974 |
RGD:7240710 |
OMIM |
Bartter Syndrome
|
| G |
Bsnd |
Bartter syndrome, infantile, with sensorineural deafness (Barttin) |
|
|
ISS |
5 |
127,542,219 |
127,551,017 |
RGD:1600603 |
RGD |
| G |
Kcnj1 |
potassium inwardly-rectifying channel, subfamily J, member 1 |
|
|
ISS |
8 |
32,158,243 |
32,162,370 |
RGD:1580799 |
RGD |
| G |
Slc12a1 |
solute carrier family 12 (sodium/potassium/chloride transporters), member 1 |
|
|
ISS |
3 |
112,455,897 |
112,534,752 |
RGD:1624188 |
RGD |
| G |
Slc12a3 |
solute carrier family 12 (sodium/chloride transporters), member 3 |
|
|
ISS |
19 |
11,070,329 |
11,109,634 |
RGD:1580588 |
RGD |
Bartter syndrome, antenatal , type 2
|
| G |
Kcnj1 |
potassium inwardly-rectifying channel, subfamily J, member 1 |
|
|
ISS |
8 |
32,158,243 |
32,162,370 |
RGD:7240710 |
OMIM |
Bartter syndrome, antenatal type 1
|
| G |
Slc12a1 |
solute carrier family 12 (sodium/potassium/chloride transporters), member 1 |
|
|
ISS |
3 |
112,455,897 |
112,534,752 |
RGD:7240710 |
OMIM |
Bartter syndrome, type 3
|
| G |
Clcnkb |
chloride channel, voltage-sensitive Kb |
|
|
ISS |
5 |
160,294,294 |
160,305,991 |
RGD:7240710 |
OMIM |
Bartter Syndrome, Type 4A
|
| G |
Bsnd |
Bartter syndrome, infantile, with sensorineural deafness (Barttin) |
|
|
ISS |
5 |
127,542,219 |
127,551,017 |
RGD:7240710 |
OMIM |
Bartter Syndrome, Type 4b
|
| G |
Clcnka |
chloride channel, voltage-sensitive Ka |
|
|
ISS |
5 |
160,274,377 |
160,290,369 |
RGD:7240710 |
OMIM |
| G |
Clcnkb |
chloride channel, voltage-sensitive Kb |
|
|
ISS |
5 |
160,294,294 |
160,305,991 |
RGD:7240710 |
OMIM |
Beta ketothiolase deficiency
|
| G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
|
|
ISS |
8 |
57,044,478 |
57,072,970 |
RGD:7240710 |
OMIM |
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
|
| G |
Hibch |
3-hydroxyisobutyryl-CoA hydrolase |
|
|
ISS |
9 |
45,564,702 |
45,645,252 |
RGD:7240710 |
OMIM |
beta-Mannosidosis
|
| G |
Manba |
mannosidase, beta A, lysosomal |
|
|
ISS |
2 |
232,983,989 |
233,077,788 |
RGD:7240710 |
OMIM |
Beta-Ureidopropionase Deficiency
|
| G |
Upb1 |
ureidopropionase, beta |
|
|
ISS |
20 |
13,715,995 |
13,743,261 |
RGD:7240710 |
OMIM |
Bile acid synthesis defect, congenital, 1
|
| G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
|
|
ISS |
1 |
187,085,808 |
187,089,078 |
RGD:7240710 |
OMIM |
Bile acid synthesis defect, congenital, 2
|
| G |
Akr1d1 |
aldo-keto reductase family 1, member D1 |
|
|
ISS |
4 |
64,972,908 |
65,005,896 |
RGD:7240710 |
OMIM |
Bile acid synthesis defect, congenital, 4
|
| G |
Amacr |
alpha-methylacyl-CoA racemase |
|
|
ISS |
2 |
60,332,292 |
60,344,326 |
RGD:7240710 |
OMIM |
Biotinidase Deficiency
|
| G |
Btd |
biotinidase |
|
|
ISS |
16 |
7,111,351 |
7,141,809 |
RGD:7240710 |
OMIM |
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY
|
| G |
Bpgm |
2,3-bisphosphoglycerate mutase |
|
|
ISS |
4 |
61,858,884 |
61,888,007 |
RGD:7240710 |
OMIM |
Brain Diseases, Metabolic, Inborn
|
| G |
Gcdh |
glutaryl-CoA dehydrogenase |
|
|
ISS |
19 |
24,919,470 |
24,925,943 |
RGD:704404 |
RGD |
| G |
Mc2r |
melanocortin 2 receptor (adrenocorticotropic hormone) |
|
|
ISS |
18 |
64,591,344 |
64,601,883 |
RGD:1600747 |
RGD |
| G |
Mc2r |
melanocortin 2 receptor (adrenocorticotropic hormone) |
|
|
ISS |
18 |
64,591,344 |
64,601,883 |
RGD:1600745 |
RGD |
| G |
Ndufs1 |
NADH dehydrogenase (ubiquinone) Fe-S protein 1 |
|
|
ISS |
9 |
61,798,141 |
61,831,964 |
RGD:1556706 |
RGD |
| G |
Ndufs4 |
NADH dehydrogenase (ubiquinone) Fe-S protein 4 |
|
|
ISS |
2 |
45,839,236 |
46,479,619 |
RGD:6484689 |
RGD |
Canavan Disease
|
| G |
Aspa |
aspartoacylase |
|
Model |
IAGP |
10 |
60,178,509 |
60,199,207 |
RGD:1599298 |
RGD |
| G |
Aspa |
aspartoacylase |
|
Susceptibility |
ISS |
10 |
60,178,509 |
60,199,207 |
RGD:1599291 |
RGD |
| G |
Aspa |
aspartoacylase |
|
|
ISS |
10 |
60,178,509 |
60,199,207 |
RGD:7240710 |
OMIM |
| G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
|
ISS |
8 |
60,610,835 |
60,645,877 |
RGD:5686858 |
RGD |
| G |
Glud1 |
glutamate dehydrogenase 1 |
|
|
ISS |
16 |
9,965,718 |
9,999,254 |
RGD:6484588 |
RGD |
| S |
TRM/Kyo |
tremor rat |
|
Model |
TAS |
|
|
|
RGD:628404 |
RGD |
| S |
W-AspatmKyo |
|
|
|
IED |
|
|
|
RGD:628403 |
RGD |
| S |
W-AspatmKyo |
|
|
|
IED |
|
|
|
RGD:628404 |
RGD |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
| G |
Cps1 |
carbamoyl-phosphate synthetase 1 |
|
|
ISS |
9 |
65,907,211 |
66,017,942 |
RGD:7240710 |
OMIM |
Carbohydrate Metabolism, Inborn Errors
|
| G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
|
|
ISS |
8 |
57,044,478 |
57,072,970 |
RGD:2326222 |
RGD |
| G |
Gk |
glycerol kinase |
|
|
ISS |
X |
72,416,872 |
72,493,296 |
RGD:1601343 |
RGD |
| G |
Hmgcl |
3-hydroxymethyl-3-methylglutaryl-CoA lyase |
|
|
IAGP |
5 |
154,730,232 |
154,743,974 |
RGD:2326182 |
RGD |
| G |
Mpi |
mannose phosphate isomerase (mapped) |
|
|
ISS |
8 |
61,298,820 |
61,306,727 |
RGD:1600452 |
RGD |
| G |
Oxct1 |
3-oxoacid CoA transferase 1 |
|
|
ISS |
2 |
53,189,358 |
53,217,848 |
RGD:2326201 |
RGD |
| G |
Taldo1 |
transaldolase 1 |
|
|
ISS |
1 |
201,582,856 |
201,593,187 |
RGD:1599293 |
RGD |
| G |
Tpi1 |
triosephosphate isomerase 1 |
|
|
ISS |
4 |
160,933,341 |
160,936,871 |
RGD:1599584 |
RGD |
Carboxypeptidase N Deficiency
|
| G |
Cpn1 |
carboxypeptidase N, polypeptide 1 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Carnitine palmitoyl transferase 1A deficiency
|
| G |
Cpt1a |
carnitine palmitoyltransferase 1a, liver |
|
|
ISS |
1 |
205,852,800 |
205,912,972 |
RGD:7240710 |
OMIM |
Carnitine Palmitoyltransferase II Deficiency, Infantile
|
| G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
|
ISS |
5 |
129,007,685 |
129,025,501 |
RGD:7240710 |
OMIM |
Carnitine Palmitoyltransferase II Deficiency, Late-Onset
|
| G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
|
ISS |
5 |
129,007,685 |
129,025,501 |
RGD:7240710 |
OMIM |
Carnitine-Acylcarnitine Translocase Deficiency
|
| G |
Slc25a20 |
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 |
|
|
ISS |
8 |
113,715,211 |
113,737,063 |
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 |
Cerebral Amyloid Angiopathy, App-Related
|
| G |
App |
amyloid beta (A4) precursor protein |
|
|
ISS |
11 |
24,457,855 |
24,693,851 |
RGD:7240710 |
OMIM |
Cerebral Amyloid Angiopathy, Familial
|
| G |
Cst3 |
cystatin C |
|
|
ISS |
3 |
137,650,903 |
137,654,776 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 1, infantile
|
| G |
Ppt1 |
palmitoyl-protein thioesterase 1 |
|
|
ISS |
5 |
142,153,498 |
142,173,401 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 3, Juvenile
|
| G |
Cln3 |
ceroid-lipofuscinosis, neuronal 3 |
|
|
ISS |
1 |
185,713,096 |
185,724,375 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 4
|
| G |
Cln6 |
ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
|
|
ISS |
8 |
66,987,057 |
67,002,013 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 5
|
| G |
Cln5 |
ceroid-lipofuscinosis, neuronal 5 |
|
|
ISS |
15 |
87,080,071 |
87,089,784 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 8
|
| G |
Cln8 |
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) |
|
|
ISS |
16 |
79,569,745 |
79,579,636 |
RGD:7240710 |
OMIM |
Ceroid Lipofuscinosis, Neuronal, 1
|
| G |
Ppt1 |
palmitoyl-protein thioesterase 1 |
|
|
ISS |
5 |
142,153,498 |
142,173,401 |
RGD:7240710 |
OMIM |
Ceroid Lipofuscinosis, Neuronal, 10
|
| G |
Ctsd |
cathepsin D |
|
|
ISS |
1 |
202,619,669 |
202,631,545 |
RGD:7240710 |
OMIM |
Ceroid Lipofuscinosis, Neuronal, 2
|
| G |
Tpp1 |
tripeptidyl peptidase I |
|
|
ISS |
1 |
163,490,394 |
163,496,517 |
RGD:7240710 |
OMIM |
Ceroid Lipofuscinosis, Neuronal, 6
|
| G |
Cln6 |
ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
|
|
ISS |
8 |
66,987,057 |
67,002,013 |
RGD:7240710 |
OMIM |
Cholesterol Ester Storage Disease
|
| G |
Lipa |
lipase A, lysosomal acid, cholesterol esterase |
|
|
ISS |
1 |
238,466,493 |
238,500,195 |
RGD:1600621 |
RGD |
Chondrodysplasia Punctata, Rhizomelic
|
| G |
Agps |
alkylglycerone phosphate synthase |
|
|
ISS |
|
|
|
RGD:1300366 |
RGD |
| G |
Gnpat |
glyceronephosphate O-acyltransferase |
|
|
ISS |
19 |
55,033,777 |
55,059,491 |
RGD:704404 |
RGD |
| G |
Pex7 |
peroxisomal biogenesis factor 7 |
|
|
ISS |
1 |
15,099,265 |
15,163,734 |
RGD:704404 |
RGD |
| G |
Pex7 |
peroxisomal biogenesis factor 7 |
|
|
ISS |
1 |
15,099,265 |
15,163,734 |
RGD:7240710 |
OMIM |
Chylomicron retention disease
|
| G |
Sar1b |
SAR1 homolog B (S. cerevisiae) |
|
|
ISS |
10 |
37,283,985 |
37,313,599 |
RGD:7240710 |
OMIM |
Citrullinemia
|
| G |
Ass1 |
argininosuccinate synthase 1 |
|
Susceptibility |
ISS |
3 |
10,578,717 |
10,622,332 |
RGD:1599301 |
RGD |
| G |
Ass1 |
argininosuccinate synthase 1 |
|
|
ISS |
3 |
10,578,717 |
10,622,332 |
RGD:7240710 |
OMIM |
| G |
Slc25a13 |
solute carrier family 25 (aspartate/glutamate carrier), member 13 |
|
Susceptibility |
ISS |
4 |
30,822,456 |
31,006,241 |
RGD:1599242 |
RGD |
| G |
Slc25a13 |
solute carrier family 25 (aspartate/glutamate carrier), member 13 |
|
|
ISS |
4 |
30,822,456 |
31,006,241 |
RGD:1599241 |
RGD |
| G |
Slc25a15 |
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 |
|
|
ISS |
16 |
74,280,827 |
74,301,105 |
RGD:1599239 |
RGD |
| G |
Slc25a15 |
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 |
|
|
ISS |
16 |
74,280,827 |
74,301,105 |
RGD:1599240 |
RGD |
COENZYME Q10 DEFICIENCY, PRIMARY, 1
|
| G |
Coq2 |
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase |
|
|
ISS |
14 |
10,189,565 |
10,208,996 |
RGD:7240710 |
OMIM |
Combined Saposin Deficiency
|
| G |
Psap |
prosaposin |
|
|
ISS |
20 |
27,595,048 |
27,621,574 |
RGD:7240710 |
OMIM |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
|
| G |
Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
|
|
ISS |
7 |
112,977,395 |
112,984,080 |
RGD:7240710 |
OMIM |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
| G |
Cyp21a1 |
cytochrome P450, family 21, subfamily a, polypeptide 1 |
|
|
ISS |
20 |
4,125,357 |
4,128,518 |
RGD:7240710 |
OMIM |
Congenital atransferrinemia
|
| G |
Tf |
transferrin |
|
|
ISS |
8 |
108,217,774 |
108,244,487 |
RGD:7240710 |
OMIM |
Congenital chloride diarrhea
|
| G |
Slc26a3 |
solute carrier family 26, member 3 |
|
|
ISS |
6 |
49,305,008 |
49,346,008 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1A
|
| G |
Pmm2 |
phosphomannomutase 2 |
|
|
ISS |
10 |
7,001,340 |
7,022,517 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1B
|
| G |
Mpi |
mannose phosphate isomerase (mapped) |
|
|
ISS |
8 |
61,298,820 |
61,306,727 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1C
|
| G |
Alg6 |
ALG6, alpha-1,3-glucosyltransferase |
|
|
ISS |
5 |
120,404,086 |
120,453,774 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1D
|
| G |
Alg3 |
ALG3, alpha-1,3- mannosyltransferase |
|
|
ISS |
11 |
82,507,540 |
82,535,341 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1E
|
| G |
Dpm1 |
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit |
|
|
ISS |
3 |
159,373,861 |
159,393,404 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1F
|
| G |
Mpdu1 |
mannose-P-dolichol utilization defect 1 |
|
|
ISS |
10 |
56,474,179 |
56,480,188 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1G
|
| G |
Alg12 |
asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase |
|
|
ISS |
7 |
127,109,296 |
127,123,482 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1H
|
| G |
Alg8 |
ALG8, alpha-1,3-glucosyltransferase |
|
|
ISS |
1 |
154,607,442 |
154,628,227 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1I
|
| G |
Alg2 |
ALG2, alpha-1,3/1,6-mannosyltransferase |
|
|
ISS |
5 |
64,092,017 |
64,096,576 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1J
|
| G |
Dpagt1 |
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) |
|
|
ISS |
8 |
47,305,087 |
47,311,488 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1K
|
| G |
Alg1 |
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase |
|
|
ISS |
10 |
10,460,098 |
10,470,815 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 1L
|
| G |
Alg9 |
alpha-1,2-mannosyltransferase |
|
|
ISS |
8 |
54,131,722 |
54,194,200 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 2A
|
| G |
Mgat2 |
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase |
|
|
ISS |
6 |
91,137,262 |
91,139,751 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 2D
|
| G |
B4galt1 |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 |
|
|
ISS |
5 |
58,196,388 |
58,243,231 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation type 2E
|
| G |
Cog7 |
component of oligomeric golgi complex 7 |
|
|
ISS |
1 |
180,753,411 |
180,812,765 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation, type 2C
|
| G |
Slc35c1 |
solute carrier family 35, member C1 |
|
|
ISS |
3 |
76,847,879 |
76,854,414 |
RGD:7240710 |
OMIM |
Congenital disorder of glycosylation, type 2G
|
| G |
Cog1 |
component of oligomeric golgi complex 1 |
|
|
ISS |
10 |
103,279,513 |
103,292,311 |
RGD:7240710 |
OMIM |
Congenital Disorder Of Glycosylation, Type IIF
|
| G |
Slc35a1 |
solute carrier family 35 (CMP-sialic acid transporter), member A1 |
|
|
ISS |
5 |
51,271,752 |
51,290,346 |
RGD:7240710 |
OMIM |
Congenital Disorder Of Glycosylation, Type IIH
|
| G |
Cog8 |
component of oligomeric golgi complex 8 |
|
|
ISS |
19 |
36,904,222 |
36,914,972 |
RGD:7240710 |
OMIM |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi
|
| G |
Cog5 |
component of oligomeric golgi complex 5 |
|
|
ISS |
6 |
49,523,386 |
50,200,662 |
RGD:7240710 |
OMIM |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
|
| G |
Cog4 |
component of oligomeric golgi complex 4 |
|
|
ISS |
19 |
40,769,219 |
40,803,409 |
RGD:7240710 |
OMIM |
Congenital Disorder Of Glycosylation, Type In
|
| G |
Rft1 |
RFT1 homolog (S. cerevisiae) |
|
|
ISS |
16 |
6,058,924 |
6,092,957 |
RGD:7240710 |
OMIM |
Congenital Disorder of Glycosylation, Type Io
|
| G |
Dpm3 |
dolichyl-phosphate mannosyltransferase polypeptide 3 |
|
|
ISS |
2 |
181,439,451 |
181,439,966 |
RGD:7240710 |
OMIM |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
|
| G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
|
|
ISS |
16 |
74,600,058 |
74,607,303 |
RGD:7240710 |
OMIM |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
|
| G |
Srd5a3 |
steroid 5 alpha-reductase 3 |
|
|
ISS |
14 |
34,318,370 |
34,333,413 |
RGD:7240710 |
OMIM |
Congenital Disorders of Glycosylation
|
| G |
B4galt1 |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 |
|
|
ISS |
5 |
58,196,388 |
58,243,231 |
RGD:1599432 |
RGD |
| G |
Pmm2 |
phosphomannomutase 2 |
|
|
ISS |
10 |
7,001,340 |
7,022,517 |
RGD:1599134 |
RGD |
| G |
Pmm2 |
phosphomannomutase 2 |
|
|
ISS |
10 |
7,001,340 |
7,022,517 |
RGD:1599132 |
RGD |
Coproporphyria, Hereditary
|
| G |
Cpox |
coproporphyrinogen oxidase |
|
|
ISS |
11 |
42,748,703 |
42,758,686 |
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 |
Cortisone reductase deficiency
|
| G |
H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
|
|
ISS |
5 |
167,093,827 |
167,125,298 |
RGD:7240710 |
OMIM |
Costeff optic atrophy syndrome
|
| G |
Opa3 |
optic atrophy 3 |
|
|
ISS |
1 |
78,592,874 |
78,611,029 |
RGD:7240710 |
OMIM |
Creatine deficiency, X-linked
|
| G |
Slc6a8 |
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 |
|
|
ISS |
X |
159,570,789 |
159,580,093 |
RGD:7240710 |
OMIM |
CREATINE PHOSPHOKINASE, ELEVATED SERUM
|
| G |
Cav3 |
caveolin 3 |
|
|
ISS |
4 |
148,294,428 |
148,310,380 |
RGD:7240710 |
OMIM |
Crigler Najjar syndrome, type 1
|
| G |
Ugt1a1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
|
|
ISS |
9 |
87,091,241 |
87,098,362 |
RGD:6482851 |
RGD |
| G |
Ugt1a1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
|
|
ISS |
9 |
87,091,241 |
87,098,362 |
RGD:6482856 |
RGD |
| G |
Ugt1a1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
|
|
ISS |
9 |
87,091,241 |
87,098,362 |
RGD:7240710 |
OMIM |
Crigler Najjar syndrome, type 2
|
| G |
Ugt1a1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
|
|
ISS |
9 |
87,091,241 |
87,098,362 |
RGD:7240710 |
OMIM |
Crigler-Najjar Syndrome
|
| G |
Ugt1a1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
|
Susceptibility |
ISS |
9 |
87,091,241 |
87,098,362 |
RGD:1600438 |
RGD |
| S |
Gunn-Ugt1a1jBluHsdRrrc |
Gunn rat |
|
Model |
TAS |
|
|
|
RGD:2292495 |
RGD |
Cystinosis
|
| G |
Ctns |
cystinosin, lysosomal cystine transporter |
|
Susceptibility |
ISS |
10 |
60,060,254 |
60,075,352 |
RGD:1601022 |
RGD |
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
|
| G |
Ctns |
cystinosin, lysosomal cystine transporter |
|
|
ISS |
10 |
60,060,254 |
60,075,352 |
RGD:7240710 |
OMIM |
Cystinosis, ocular nonnephropathic
|
| G |
Ctns |
cystinosin, lysosomal cystine transporter |
|
|
ISS |
10 |
60,060,254 |
60,075,352 |
RGD:7240710 |
OMIM |
Cystinuria
|
| G |
Slc3a1 |
solute carrier family 3, member 1 |
|
Susceptibility |
ISS |
6 |
8,385,186 |
8,419,465 |
RGD:1600015 |
RGD |
| G |
Slc3a1 |
solute carrier family 3, member 1 |
|
|
ISS |
6 |
8,385,186 |
8,419,465 |
RGD:7240710 |
OMIM |
| G |
Slc7a9 |
solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 |
|
|
ISS |
1 |
87,976,440 |
87,999,102 |
RGD:737767 |
RGD |
| G |
Slc7a9 |
solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 |
|
|
ISS |
1 |
87,976,440 |
87,999,102 |
RGD:7240710 |
OMIM |
Cytochrome-c Oxidase Deficiency
|
| G |
Cox15 |
cytochrome c oxidase assembly homolog 15 (yeast) |
|
|
ISS |
1 |
247,077,102 |
247,093,757 |
RGD:1598470 |
RGD |
| G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
|
ISS |
6 |
8,086,606 |
8,168,261 |
RGD:1600676 |
RGD |
D-2-HYDROXYGLUTARIC ACIDURIA 1
|
| G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
|
ISS |
9 |
93,100,369 |
93,119,170 |
RGD:7240710 |
OMIM |
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
| G |
Idh2 |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
|
|
ISS |
1 |
135,876,052 |
135,895,373 |
RGD:7240710 |
OMIM |
D-BIFUNCTIONAL PROTEIN DEFICIENCY
|
| G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
|
|
ISS |
18 |
45,157,435 |
45,251,606 |
RGD:7240710 |
OMIM |
De Vivo disease
|
| G |
Slc2a1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
|
|
ISS |
5 |
139,690,801 |
139,719,021 |
RGD:7240710 |
OMIM |
Dementia, familial British
|
| G |
Itm2b |
integral membrane protein 2B |
|
|
ISS |
15 |
54,005,134 |
54,028,036 |
RGD:7240710 |
OMIM |
Desmosterolosis
|
| G |
Dhcr24 |
24-dehydrocholesterol reductase |
|
|
ISS |
5 |
127,637,438 |
127,662,621 |
RGD:7240710 |
OMIM |
Diarrhea 3, Secretory Sodium, Congenital
|
| G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
|
|
ISS |
1 |
84,393,845 |
84,416,299 |
RGD:7240710 |
OMIM |
Dihydropyrimidinase Deficiency
|
| G |
Dpys |
dihydropyrimidinase |
|
|
ISS |
7 |
75,368,238 |
75,446,160 |
RGD:7240710 |
OMIM |
Dihydropyrimidine Dehydrogenase Deficiency
|
| G |
Dpyd |
dihydropyrimidine dehydrogenase |
|
|
ISS |
2 |
214,931,901 |
215,818,809 |
RGD:7240710 |
OMIM |
Dimethylglycine Dehydrogenase Deficiency
|
| G |
Dmgdh |
dimethylglycine dehydrogenase |
|
|
ISS |
2 |
23,976,563 |
24,052,766 |
RGD:7240710 |
OMIM |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
|
| G |
Por |
P450 (cytochrome) oxidoreductase |
|
|
ISS |
12 |
22,078,629 |
22,097,301 |
RGD:7240710 |
OMIM |
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
|
| G |
Spr |
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) |
|
|
ISS |
4 |
119,365,578 |
119,369,308 |
RGD:7240710 |
OMIM |
Ethylmalonic encephalopathy
|
| G |
Ethe1 |
ethylmalonic encephalopathy 1 |
|
|
ISS |
1 |
79,875,629 |
79,890,681 |
RGD:7240710 |
OMIM |
Fabry Disease
|
| G |
Gla |
galactosidase, alpha |
|
|
ISS |
X |
122,044,703 |
122,056,327 |
RGD:1601350 |
RGD |
| G |
Gla |
galactosidase, alpha |
|
|
ISS |
X |
122,044,703 |
122,056,327 |
RGD:7240710 |
OMIM |
| G |
Il1a |
interleukin 1 alpha |
|
|
ISS |
3 |
116,913,612 |
116,924,114 |
RGD:6907117 |
RGD |
Fanconi Syndrome
|
| G |
Slc17a2 |
solute carrier family 17 (sodium phosphate), member 2 |
|
|
ISS |
17 |
48,557,119 |
48,573,741 |
RGD:7240710 |
OMIM |
| G |
Slc2a2 |
solute carrier family 2 (facilitated glucose transporter), member 2 |
|
|
ISS |
2 |
116,036,501 |
116,065,834 |
RGD:7240710 |
OMIM |
| G |
Slc34a1 |
solute carrier family 34 (sodium phosphate), member 1 |
|
|
ISS |
17 |
15,262,929 |
15,277,902 |
RGD:7242923 |
RGD |
| G |
Slc34a1 |
solute carrier family 34 (sodium phosphate), member 1 |
|
|
ISS |
17 |
15,262,929 |
15,277,902 |
RGD:7240710 |
OMIM |
Fanconi-Bickel Syndrome
|
| G |
Slc2a2 |
solute carrier family 2 (facilitated glucose transporter), member 2 |
|
|
ISS |
2 |
116,036,501 |
116,065,834 |
RGD:7240710 |
OMIM |
Farber Lipogranulomatosis
|
| G |
Asah1 |
N-acylsphingosine amidohydrolase (acid ceramidase) 1 |
|
|
ISS |
16 |
54,279,253 |
54,311,084 |
RGD:7240710 |
OMIM |
Finnish lethal neonatal metabolic syndrome
|
| G |
Bcs1l |
BC1 (ubiquinol-cytochrome c reductase) synthesis-like |
|
|
ISS |
9 |
73,939,024 |
73,943,055 |
RGD:7240710 |
OMIM |
Fructose Intolerance
|
| G |
Aldob |
aldolase B, fructose-bisphosphate |
|
|
ISS |
5 |
66,283,165 |
66,296,171 |
RGD:1300369 |
RGD |
| G |
Aldob |
aldolase B, fructose-bisphosphate |
|
Susceptibility |
ISS |
5 |
66,283,165 |
66,296,171 |
RGD:1599063 |
RGD |
| G |
Aldob |
aldolase B, fructose-bisphosphate |
|
|
ISS |
5 |
66,283,165 |
66,296,171 |
RGD:7240710 |
OMIM |
Fructose Metabolism, Inborn Errors
|
| G |
Fbp1 |
fructose-1,6-bisphosphatase 1 |
|
|
ISS |
17 |
7,795,717 |
7,818,041 |
RGD:7240710 |
OMIM |
Fructose-1,6-Diphosphatase Deficiency
|
| G |
Fbp1 |
fructose-1,6-bisphosphatase 1 |
|
|
ISS |
17 |
7,795,717 |
7,818,041 |
RGD:1601165 |
RGD |
| G |
Fbp1 |
fructose-1,6-bisphosphatase 1 |
|
|
ISS |
17 |
7,795,717 |
7,818,041 |
RGD:7240710 |
OMIM |
Fructosuria
|
| G |
Khk |
ketohexokinase |
|
|
ISS |
6 |
25,428,263 |
25,438,497 |
RGD:7240710 |
OMIM |
Fucosidosis
|
| G |
Fuca1 |
fucosidase, alpha-L- 1, tissue |
|
|
ISS |
5 |
154,703,722 |
154,720,971 |
RGD:704404 |
RGD |
| G |
Fuca1 |
fucosidase, alpha-L- 1, tissue |
|
|
ISS |
5 |
154,703,722 |
154,720,971 |
RGD:1598969 |
RGD |
| G |
Fuca1 |
fucosidase, alpha-L- 1, tissue |
|
|
ISS |
5 |
154,703,722 |
154,720,971 |
RGD:7240710 |
OMIM |
Fumaric aciduria
|
| G |
Fh |
fumarate hydratase |
|
|
ISS |
13 |
91,329,837 |
91,355,722 |
RGD:7240710 |
OMIM |
Galactosemias
|
| G |
Akr1b1 |
aldo-keto reductase family 1, member B1 (aldose reductase) |
|
|
IEP |
4 |
61,645,438 |
61,659,530 |
RGD:1599728 |
RGD |
| G |
Cryaa |
crystallin, alpha A |
|
|
IEP |
|
|
|
RGD:1600994 |
RGD |
| G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
|
IEP |
7 |
67,247,749 |
67,252,571 |
RGD:1599728 |
RGD |
| G |
Gale |
UDP-galactose-4-epimerase |
|
|
ISS |
5 |
154,745,853 |
154,750,357 |
RGD:704404 |
RGD |
| G |
Gale |
UDP-galactose-4-epimerase |
|
|
ISS |
5 |
154,745,853 |
154,750,357 |
RGD:7240710 |
OMIM |
| G |
Galk1 |
galactokinase 1 |
|
|
ISS |
10 |
106,116,774 |
106,120,951 |
RGD:7240710 |
OMIM |
| G |
Galt |
galactose-1-phosphate uridylyltransferase |
|
|
ISS |
5 |
59,185,418 |
59,188,642 |
RGD:704404 |
RGD |
| G |
Galt |
galactose-1-phosphate uridylyltransferase |
|
|
ISS |
5 |
59,185,418 |
59,188,642 |
RGD:7240710 |
OMIM |
Gamma aminobutyric acid transaminase deficiency
|
| G |
Abat |
4-aminobutyrate aminotransferase |
|
|
ISS |
10 |
7,040,725 |
7,137,154 |
RGD:7240710 |
OMIM |
Gamma-cystathionase deficiency
|
| G |
Cth |
cystathionase (cystathionine gamma-lyase) |
|
|
ISS |
2 |
256,056,562 |
256,082,248 |
RGD:7240710 |
OMIM |
Gangliosidoses, GM2
|
| G |
Gm2a |
GM2 ganglioside activator |
|
|
ISS |
10 |
40,502,175 |
40,514,708 |
RGD:1598993 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6480199 |
RGD |
| G |
Sncb |
synuclein, beta |
|
|
ISS |
17 |
15,907,498 |
15,915,705 |
RGD:6480199 |
RGD |
Gangliosidosis, GM1
|
| G |
Glb1 |
galactosidase, beta 1 |
|
|
ISS |
8 |
118,791,550 |
118,864,281 |
RGD:1598983 |
RGD |
| G |
Glb1 |
galactosidase, beta 1 |
|
|
ISS |
8 |
118,791,550 |
118,864,281 |
RGD:7240710 |
OMIM |
Gaucher Disease
|
| G |
Chit1 |
chitinase 1 (chitotriosidase) |
|
|
ISS |
13 |
47,095,240 |
47,109,367 |
RGD:7240710 |
OMIM |
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:5508431 |
RGD |
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:5508423 |
RGD |
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Il4 |
interleukin 4 |
|
|
ISS |
10 |
39,074,582 |
39,080,134 |
RGD:5128511 |
RGD |
| G |
Mogs |
mannosyl-oligosaccharide glucosidase |
|
|
ISS |
4 |
117,327,609 |
117,331,012 |
RGD:704404 |
RGD |
Gaucher Disease, Atypical, Due To Saposin C Deficiency
|
| G |
Psap |
prosaposin |
|
|
ISS |
20 |
27,595,048 |
27,621,574 |
RGD:7240710 |
OMIM |
Gaucher Disease, Perinatal Lethal
|
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Gaucher-like disease
|
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Gilbert Disease
|
| G |
Ugt1a1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
|
|
ISS |
9 |
87,091,241 |
87,098,362 |
RGD:7240710 |
OMIM |
Gitelman Syndrome
|
| G |
Slc12a3 |
solute carrier family 12 (sodium/chloride transporters), member 3 |
|
|
ISS |
19 |
11,070,329 |
11,109,634 |
RGD:7240710 |
OMIM |
Glucose/Galactose Malabsorption
|
| G |
Slc5a1 |
solute carrier family 5 (sodium/glucose cotransporter), member 1 |
|
|
ISS |
14 |
83,311,232 |
83,370,657 |
RGD:7240710 |
OMIM |
Glucosephosphate Dehydrogenase Deficiency
|
| G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
|
ISS |
X |
160,186,450 |
160,192,316 |
RGD:7240710 |
OMIM |
Glutamate formiminotransferase deficiency
|
| G |
Ftcd |
formiminotransferase cyclodeaminase |
|
|
ISS |
20 |
12,470,291 |
12,483,807 |
RGD:7240710 |
OMIM |
Glutamine deficiency, congenital
|
| G |
Glul |
glutamate-ammonia ligase |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Glutaric aciduria 1
|
| G |
Gcdh |
glutaryl-CoA dehydrogenase |
|
|
ISS |
19 |
24,919,470 |
24,925,943 |
RGD:7240710 |
OMIM |
Glutathione synthetase deficiency
|
| G |
Gss |
glutathione synthetase |
|
|
ISS |
3 |
146,057,517 |
146,087,820 |
RGD:1599324 |
RGD |
| G |
Gss |
glutathione synthetase |
|
|
ISS |
3 |
146,057,517 |
146,087,820 |
RGD:7240710 |
OMIM |
Glycine N-Methyltransferase Deficiency
|
| G |
Gnmt |
glycine N-methyltransferase |
|
|
ISS |
9 |
10,127,092 |
10,130,444 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease
|
| G |
Gys2 |
glycogen synthase 2 |
|
|
ISS |
4 |
179,984,036 |
180,018,819 |
RGD:1600764 |
RGD |
| G |
Gys2 |
glycogen synthase 2 |
|
|
ISS |
4 |
179,984,036 |
180,018,819 |
RGD:704404 |
RGD |
| G |
Gys2 |
glycogen synthase 2 |
|
|
ISS |
4 |
179,984,036 |
180,018,819 |
RGD:7240710 |
OMIM |
| G |
Phka1 |
phosphorylase kinase, alpha 1 |
|
|
ISS |
X |
90,553,527 |
90,692,073 |
RGD:1599893 |
RGD |
| G |
Phka2 |
phosphorylase kinase, alpha 2 |
|
|
ISS |
X |
55,463,178 |
55,580,783 |
RGD:1601388 |
RGD |
| G |
Phkg2 |
phosphorylase kinase, gamma 2 (testis) |
|
|
IAGP |
1 |
186,858,077 |
186,870,601 |
RGD:737724 |
RGD |
| G |
Phkg2 |
phosphorylase kinase, gamma 2 (testis) |
|
|
ISS |
1 |
186,858,077 |
186,870,601 |
RGD:737724 |
RGD |
| G |
Prkag2 |
protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
|
|
ISS |
4 |
5,620,992 |
5,667,438 |
RGD:1580717 |
RGD |
| G |
Pygl |
phosphorylase, glycogen, liver |
|
|
ISS |
6 |
92,298,339 |
92,341,347 |
RGD:1599374 |
RGD |
| G |
Slc2a2 |
solute carrier family 2 (facilitated glucose transporter), member 2 |
|
|
ISS |
2 |
116,036,501 |
116,065,834 |
RGD:1624253 |
RGD |
Glycogen Storage Disease 0, Liver
|
| G |
Gys2 |
glycogen synthase 2 |
|
|
ISS |
4 |
179,984,036 |
180,018,819 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease 0, Muscle
|
| G |
Gys1 |
glycogen synthase 1, muscle |
|
|
ISS |
1 |
95,907,458 |
95,928,150 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease IB
|
| G |
Slc37a4 |
solute carrier family 37 (glucose-6-phosphate transporter), member 4 |
|
|
ISS |
8 |
47,363,896 |
47,369,981 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease IC
|
| G |
Slc37a4 |
solute carrier family 37 (glucose-6-phosphate transporter), member 4 |
|
|
ISS |
8 |
47,363,896 |
47,369,981 |
RGD:7240710 |
OMIM |
GLYCOGEN STORAGE DISEASE IXa1
|
| G |
Phka2 |
phosphorylase kinase, alpha 2 |
|
|
ISS |
X |
55,463,178 |
55,580,783 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease IXB
|
| G |
Phkb |
phosphorylase kinase, beta |
|
|
ISS |
19 |
22,373,355 |
22,561,509 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease IXC
|
| G |
Phkg2 |
phosphorylase kinase, gamma 2 (testis) |
|
|
ISS |
1 |
186,858,077 |
186,870,601 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease of Heart, Lethal Congenital
|
| G |
Prkag2 |
protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
|
|
ISS |
4 |
5,620,992 |
5,667,438 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease Type I
|
| G |
G6pc |
glucose-6-phosphatase, catalytic subunit |
|
|
ISS |
10 |
90,393,531 |
90,403,485 |
RGD:704404 |
RGD |
| G |
G6pc |
glucose-6-phosphatase, catalytic subunit |
|
|
ISS |
10 |
90,393,531 |
90,403,485 |
RGD:7240710 |
OMIM |
| G |
Slc37a4 |
solute carrier family 37 (glucose-6-phosphate transporter), member 4 |
|
|
TAS |
8 |
47,363,896 |
47,369,981 |
RGD:61591 |
RGD |
| G |
Slc37a4 |
solute carrier family 37 (glucose-6-phosphate transporter), member 4 |
|
|
ISS |
8 |
47,363,896 |
47,369,981 |
RGD:1599000 |
RGD |
| G |
Slc37a4 |
solute carrier family 37 (glucose-6-phosphate transporter), member 4 |
|
|
ISS |
8 |
47,363,896 |
47,369,981 |
RGD:704404 |
RGD |
Glycogen Storage Disease Type II
|
| G |
Gaa |
glucosidase, alpha, acid |
|
|
ISS |
|
|
|
RGD:1302856 |
RGD |
| G |
Gaa |
glucosidase, alpha, acid |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Glycogen Storage Disease Type IIb
|
| G |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
|
ISS |
X |
6,908,285 |
6,951,772 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease Type III
|
| G |
Agl |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
|
|
IEA |
2 |
212,985,676 |
213,041,451 |
RGD:1331525 |
RGD |
| G |
Agl |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
|
|
ISS |
2 |
212,985,676 |
213,041,451 |
RGD:1566516 |
RGD |
| G |
Agl |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
|
Susceptibility |
ISS |
2 |
212,985,676 |
213,041,451 |
RGD:1601129 |
RGD |
| G |
Agl |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
|
|
ISS |
2 |
212,985,676 |
213,041,451 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease Type IV
|
| G |
Gbe1 |
glucan (1,4-alpha-), branching enzyme 1 |
|
|
ISS |
11 |
8,720,408 |
8,975,471 |
RGD:1601279 |
RGD |
| G |
Gbe1 |
glucan (1,4-alpha-), branching enzyme 1 |
|
|
ISS |
11 |
8,720,408 |
8,975,471 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease Type V
|
| G |
Pygm |
phosphorylase, glycogen, muscle |
|
|
ISS |
1 |
209,166,701 |
209,181,588 |
RGD:1599985 |
RGD |
| G |
Pygm |
phosphorylase, glycogen, muscle |
|
|
ISS |
1 |
209,166,701 |
209,181,588 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease Type VI
|
| G |
Pygl |
phosphorylase, glycogen, liver |
|
|
ISS |
6 |
92,298,339 |
92,341,347 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease Type VII
|
| G |
Pfkm |
phosphofructokinase, muscle |
|
|
ISS |
7 |
136,826,122 |
136,846,040 |
RGD:1599108 |
RGD |
| G |
Pfkm |
phosphofructokinase, muscle |
|
|
ISS |
7 |
136,826,122 |
136,846,040 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease Type VIII
|
| G |
Phka2 |
phosphorylase kinase, alpha 2 |
|
|
ISS |
X |
55,463,178 |
55,580,783 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease XII
|
| G |
Aldoa |
aldolase A, fructose-bisphosphate |
|
|
ISS |
1 |
185,970,658 |
185,974,615 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease XIII
|
| G |
Eno3 |
enolase 3, beta, muscle |
|
|
ISS |
10 |
57,536,965 |
57,542,317 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease XIV
|
| G |
Pgm1 |
phosphoglucomutase 1 |
|
|
ISS |
5 |
120,595,650 |
120,655,915 |
RGD:7240710 |
OMIM |
GLYCOGEN STORAGE DISEASE XV
|
| G |
Gyg1 |
glycogenin 1 |
|
|
ISS |
2 |
105,264,657 |
105,307,070 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease, Type IXD
|
| G |
Phka1 |
phosphorylase kinase, alpha 1 |
|
|
ISS |
X |
90,553,527 |
90,692,073 |
RGD:7240710 |
OMIM |
Glycosuria, Renal
|
| G |
Slc5a2 |
solute carrier family 5 (sodium/glucose cotransporter), member 2 |
|
|
ISS |
1 |
187,523,230 |
187,529,351 |
RGD:1599049 |
RGD |
| G |
Slc5a2 |
solute carrier family 5 (sodium/glucose cotransporter), member 2 |
|
|
ISS |
1 |
187,523,230 |
187,529,351 |
RGD:737731 |
RGD |
Gout
|
| G |
Adrb3 |
adrenoceptor beta 3 |
|
|
ISS |
16 |
69,163,620 |
69,166,384 |
RGD:5684422 |
RGD |
| G |
Hp |
haptoglobin |
|
|
ISS |
19 |
39,443,016 |
39,447,566 |
RGD:1626362 |
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 |
Hartnup Disease
|
| G |
Slc6a19 |
solute carrier family 6 (neutral amino acid transporter), member 19 |
|
Susceptibility |
ISS |
1 |
30,393,331 |
30,412,094 |
RGD:1600035 |
RGD |
| G |
Slc6a19 |
solute carrier family 6 (neutral amino acid transporter), member 19 |
|
|
ISS |
1 |
30,393,331 |
30,412,094 |
RGD:7240710 |
OMIM |
Hawkinsinuria
|
| G |
Hpd |
4-hydroxyphenylpyruvate dioxygenase |
|
|
ISS |
12 |
34,548,320 |
34,558,371 |
RGD:7240710 |
OMIM |
Hemochromatosis
|
| G |
Bmp2 |
bone morphogenetic protein 2 |
|
|
ISS |
3 |
121,372,692 |
121,381,236 |
RGD:7240710 |
OMIM |
| G |
Hamp |
hepcidin antimicrobial peptide |
|
|
ISS |
1 |
85,978,120 |
85,980,059 |
RGD:1599358 |
RGD |
| G |
Hamp |
hepcidin antimicrobial peptide |
|
|
ISS |
1 |
85,978,120 |
85,980,059 |
RGD:704404 |
RGD |
| G |
Hfe |
hemochromatosis |
|
|
ISS |
17 |
48,469,927 |
48,478,502 |
RGD:7207252 |
RGD |
| G |
Hfe |
hemochromatosis |
|
|
ISS |
17 |
48,469,927 |
48,478,502 |
RGD:7240710 |
OMIM |
| G |
Hfe2 |
hemochromatosis type 2 (juvenile) |
|
|
ISS |
2 |
191,329,644 |
191,333,525 |
RGD:1599478 |
RGD |
| G |
Tfr2 |
transferrin receptor 2 |
|
|
ISS |
12 |
19,638,502 |
19,655,420 |
RGD:1599386 |
RGD |
Hemochromatosis, Type 2B
|
| G |
Hamp |
hepcidin antimicrobial peptide |
|
|
ISS |
1 |
85,978,120 |
85,980,059 |
RGD:7240710 |
OMIM |
Hemochromatosis, type 3
|
| G |
Tfr2 |
transferrin receptor 2 |
|
|
ISS |
12 |
19,638,502 |
19,655,420 |
RGD:7240710 |
OMIM |
Hemochromatosis, type 4
|
| G |
Slc40a1 |
solute carrier family 40 (iron-regulated transporter), member 1 |
|
|
ISS |
9 |
44,977,430 |
44,995,358 |
RGD:7240710 |
OMIM |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
| G |
Gpi |
glucose-6-phosphate isomerase |
|
|
ISS |
1 |
86,658,836 |
86,686,712 |
RGD:7240710 |
OMIM |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
|
| G |
Hk1 |
hexokinase 1 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Hepatolenticular Degeneration
|
| G |
Atp7b |
ATPase, Cu++ transporting, beta polypeptide |
|
|
IAGP |
16 |
74,607,988 |
74,680,080 |
RGD:2292672 |
RGD |
| G |
Atp7b |
ATPase, Cu++ transporting, beta polypeptide |
|
|
IED |
16 |
74,607,988 |
74,680,080 |
RGD:734622 |
RGD |
| G |
Atp7b |
ATPase, Cu++ transporting, beta polypeptide |
|
|
ISS |
16 |
74,607,988 |
74,680,080 |
RGD:7240710 |
OMIM |
| G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
|
|
IED |
|
|
|
RGD:2307322 |
RGD |
| G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
|
IED |
2 |
27,127,504 |
27,149,580 |
RGD:2292672 |
RGD |
| G |
Smpd1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
|
Severity |
IED |
1 |
163,278,970 |
163,282,813 |
RGD:1601345 |
RGD |
| Q |
Hcuc1 |
Hepatic copper content QTL 1 |
|
|
IAGP |
|
|
|
RGD:619607 |
RGD |
| Q |
Hcuc2 |
Hepatic copper content QTL 2 |
|
|
IAGP |
16 |
1 |
40,096,622 |
RGD:619607 |
RGD |
| Q |
Hcuc3 |
Hepatic copper content QTL 3 |
|
|
IAGP |
2 |
217,985,582 |
238,139,978 |
RGD:629572 |
RGD |
| Q |
Hcuc4 |
Hepatic copper content QTL 4 |
|
|
IAGP |
10 |
70,191,595 |
77,091,834 |
RGD:629572 |
RGD |
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 |
HHH syndrome
|
| G |
Slc25a15 |
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 |
|
|
ISS |
16 |
74,280,827 |
74,301,105 |
RGD:7240710 |
OMIM |
Histidinemia
|
| G |
Hal |
histidine ammonia lyase |
|
|
ISS |
7 |
30,520,913 |
30,551,145 |
RGD:7240710 |
OMIM |
HMG CoA lyase deficiency
|
| G |
Hmgcl |
3-hydroxymethyl-3-methylglutaryl-CoA lyase |
|
|
ISS |
5 |
154,730,232 |
154,743,974 |
RGD:7240710 |
OMIM |
Holocarboxylase Synthetase Deficiency
|
| G |
Hlcs |
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) |
|
|
ISS |
11 |
34,382,010 |
34,539,032 |
RGD:7240710 |
OMIM |
Homocystinuria
|
| G |
Cbs |
cystathionine beta synthase |
|
|
ISS |
20 |
10,047,478 |
10,075,520 |
RGD:1600622 |
RGD |
| G |
Cbs |
cystathionine beta synthase |
|
|
ISS |
20 |
10,047,478 |
10,075,520 |
RGD:7240710 |
OMIM |
| G |
Fcrls |
Fc receptor-like S, scavenger receptor |
|
|
ISS |
2 |
179,283,609 |
179,294,282 |
RGD:1601421 |
RGD |
| G |
Mthfr |
methylenetetrahydrofolate reductase (NAD(P)H) |
|
|
ISS |
5 |
165,112,850 |
165,126,885 |
RGD:1601421 |
RGD |
| G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
|
ISS |
17 |
5,086,219 |
5,118,086 |
RGD:5508189 |
RGD |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
| G |
Mthfr |
methylenetetrahydrofolate reductase (NAD(P)H) |
|
|
ISS |
5 |
165,112,850 |
165,126,885 |
RGD:7240710 |
OMIM |
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
|
| G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
|
ISS |
17 |
5,086,219 |
5,118,086 |
RGD:7240710 |
OMIM |
Hutchinson Gilford progeria syndrome
|
| G |
Lmna |
lamin A/C |
|
|
ISS |
2 |
180,595,724 |
180,616,354 |
RGD:7240710 |
OMIM |
Hydroxyacyl-coa dehydrogenase, type 2, deficiency
|
| G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
|
ISS |
X |
41,489,343 |
41,491,788 |
RGD:7240710 |
OMIM |
Hyperargininemia
|
| G |
Arg1 |
arginase, liver |
|
Susceptibility |
ISS |
1 |
20,998,894 |
21,011,275 |
RGD:1599208 |
RGD |
| G |
Arg1 |
arginase, liver |
|
|
ISS |
1 |
20,998,894 |
21,011,275 |
RGD:7240710 |
OMIM |
| G |
Arg2 |
arginase type II |
|
|
ISS |
6 |
101,901,653 |
101,928,282 |
RGD:734607 |
RGD |
Hyperbilirubinemia, Hereditary
|
| G |
Abcc2 |
ATP-binding cassette, subfamily C (CFTR/MRP), member 2 |
|
|
IED |
|
|
|
RGD:631914 |
RGD |
Hyperbilirubinemia, Transient Familial Neonatal
|
| G |
Ugt1a1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
|
|
ISS |
9 |
87,091,241 |
87,098,362 |
RGD:7240710 |
OMIM |
HYPERCHLORHIDROSIS, ISOLATED
|
| G |
Car12 |
carbonic anyhydrase 12 |
|
|
ISS |
8 |
71,017,732 |
71,070,729 |
RGD:7240710 |
OMIM |
Hypercholanemia, Familial
|
| G |
Baat |
bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) |
|
|
ISS |
5 |
66,245,786 |
66,254,757 |
RGD:7240710 |
OMIM |
| G |
Ephx1 |
epoxide hydrolase 1, microsomal (xenobiotic) |
|
|
ISS |
13 |
96,722,973 |
96,752,940 |
RGD:7240710 |
OMIM |
| G |
Tjp2 |
tight junction protein 2 |
|
|
ISS |
1 |
227,475,386 |
227,574,457 |
RGD:7240710 |
OMIM |
HYPERCHOLESTEROLEMIA, FAMILIAL
|
| G |
Abca1 |
ATP-binding cassette, subfamily A (ABC1), member 1 |
|
|
ISS |
5 |
70,493,357 |
70,583,729 |
RGD:7240710 |
OMIM |
| G |
Apoa2 |
apolipoprotein A-II |
|
|
ISS |
13 |
87,114,734 |
87,116,372 |
RGD:7240710 |
OMIM |
| G |
Ephx2 |
epoxide hydrolase 2, cytoplasmic |
|
|
ISS |
15 |
45,497,660 |
45,556,101 |
RGD:7240710 |
OMIM |
| G |
Fh |
fumarate hydratase |
|
|
ISS |
13 |
91,329,837 |
91,355,722 |
RGD:7240710 |
OMIM |
| G |
Ghr |
growth hormone receptor |
|
|
ISS |
2 |
52,496,517 |
52,658,066 |
RGD:7240710 |
OMIM |
| G |
Itih4 |
inter-alpha-trypsin inhibitor heavy chain family, member 4 |
|
|
ISS |
16 |
6,319,608 |
6,334,782 |
RGD:7240710 |
OMIM |
| G |
Ldlr |
low density lipoprotein receptor |
|
|
ISS |
8 |
20,824,040 |
20,846,920 |
RGD:7240710 |
OMIM |
Hyperglycerolemia
|
| G |
Gk |
glycerol kinase |
|
|
ISS |
X |
72,416,872 |
72,493,296 |
RGD:7240710 |
OMIM |
Hyperglycinemia, Nonketotic
|
| G |
Amt |
aminomethyltransferase |
|
Susceptibility |
ISS |
|
|
|
RGD:1599106 |
RGD |
| G |
Amt |
aminomethyltransferase |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Gcsh |
glycine cleavage system protein H (aminomethyl carrier) |
|
|
ISS |
19 |
47,091,226 |
47,101,983 |
RGD:704404 |
RGD |
| G |
Gcsh |
glycine cleavage system protein H (aminomethyl carrier) |
|
|
ISS |
19 |
47,091,226 |
47,101,983 |
RGD:7240710 |
OMIM |
| G |
Gldc |
glycine dehydrogenase (decarboxylating) |
|
|
ISS |
1 |
233,846,690 |
233,925,736 |
RGD:7240710 |
OMIM |
HYPERGLYCINURIA
|
| G |
Slc36a2 |
solute carrier family 36 (proton/amino acid symporter), member 2 |
|
|
ISS |
10 |
40,562,983 |
40,590,958 |
RGD:7240710 |
OMIM |
| G |
Slc6a19 |
solute carrier family 6 (neutral amino acid transporter), member 19 |
|
|
ISS |
1 |
30,393,331 |
30,412,094 |
RGD:7240710 |
OMIM |
| G |
Slc6a20 |
solute carrier family 6 (proline IMINO transporter), member 20 |
|
|
ISS |
8 |
128,412,080 |
128,452,212 |
RGD:7240710 |
OMIM |
Hyperhomocysteinemia
|
| G |
Ahcy |
adenosylhomocysteinase |
|
|
IED |
3 |
145,544,834 |
145,560,058 |
RGD:1598896 |
RGD |
| G |
Bche |
butyrylcholinesterase |
|
|
IED |
2 |
164,329,613 |
164,427,994 |
RGD:1599454 |
RGD |
| G |
Cbs |
cystathionine beta synthase |
|
|
IAGP |
20 |
10,047,478 |
10,075,520 |
RGD:1600624 |
RGD |
| G |
Cxcl1 |
chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) |
|
|
ISS |
14 |
18,690,339 |
18,692,118 |
RGD:5135249 |
RGD |
| G |
Cxcl5 |
chemokine (C-X-C motif) ligand 5 |
|
|
ISS |
14 |
18,825,357 |
18,826,269 |
RGD:5135249 |
RGD |
| G |
Ece1 |
endothelin converting enzyme 1 |
|
|
IPM |
5 |
156,635,656 |
156,735,783 |
RGD:4892572 |
RGD |
| G |
Ednra |
endothelin receptor type A |
|
|
IEP |
19 |
32,042,366 |
32,108,153 |
RGD:4892572 |
RGD |
| G |
Fcrls |
Fc receptor-like S, scavenger receptor |
|
|
ISS |
2 |
179,283,609 |
179,294,282 |
RGD:1601421 |
RGD |
| G |
Icam1 |
intercellular adhesion molecule 1 |
|
|
IEP |
8 |
20,040,177 |
20,051,939 |
RGD:4144131 |
RGD |
| G |
Il1b |
interleukin 1 beta |
|
|
ISS |
3 |
116,964,422 |
116,970,867 |
RGD:7175168 |
RGD |
| G |
Mthfr |
methylenetetrahydrofolate reductase (NAD(P)H) |
|
|
ISS |
5 |
165,112,850 |
165,126,885 |
RGD:1601421 |
RGD |
| G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
|
ISS |
17 |
68,782,708 |
68,867,101 |
RGD:1601425 |
RGD |
| G |
Ngf |
nerve growth factor (beta polypeptide) |
|
|
IEP |
2 |
197,621,726 |
197,632,960 |
RGD:5144149 |
RGD |
| G |
Nppb |
natriuretic peptide B |
|
|
IEP |
5 |
165,062,348 |
165,063,650 |
RGD:1642265 |
RGD |
Hyperlipidemia, Familial Combined
|
| G |
Add1 |
adducin 1 (alpha) |
|
|
ISS |
14 |
81,750,430 |
81,808,919 |
RGD:1559299 |
RGD |
| G |
Alpl |
alkaline phosphatase, liver/bone/kidney |
|
|
ISS |
5 |
156,501,739 |
156,558,727 |
RGD:1601173 |
RGD |
| G |
Apob |
apolipoprotein B |
|
|
ISS |
6 |
31,508,060 |
31,548,083 |
RGD:1601200 |
RGD |
| G |
Apoc3 |
apolipoprotein C-III |
|
|
ISS |
|
|
|
RGD:5685674 |
RGD |
| G |
Apoc3 |
apolipoprotein C-III |
|
No_Association |
ISS |
|
|
|
RGD:5685676 |
RGD |
| G |
Apoc3 |
apolipoprotein C-III |
|
|
ISS |
|
|
|
RGD:1601225 |
RGD |
| G |
Apoe |
apolipoprotein E |
|
|
ISS |
1 |
79,003,634 |
79,006,387 |
RGD:1601231 |
RGD |
| G |
Apoe |
apolipoprotein E |
|
|
ISS |
1 |
79,003,634 |
79,006,387 |
RGD:1578481 |
RGD |
| G |
Lipc |
lipase, hepatic |
|
|
ISS |
8 |
75,323,442 |
75,450,353 |
RGD:1580512 |
RGD |
| G |
Lpl |
lipoprotein lipase |
|
|
ISS |
16 |
22,533,105 |
22,556,905 |
RGD:7240710 |
OMIM |
| G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
|
ISS |
4 |
151,492,220 |
151,617,331 |
RGD:1580689 |
RGD |
| G |
Thbd |
thrombomodulin |
|
|
ISS |
3 |
137,158,955 |
137,162,607 |
RGD:1601645 |
RGD |
| G |
Usf1 |
upstream transcription factor 1 |
|
|
ISS |
13 |
87,336,705 |
87,344,466 |
RGD:7240710 |
OMIM |
Hyperlipoproteinemia Type I
|
| G |
Apoc2 |
apolipoprotein C-II |
|
|
ISS |
1 |
78,979,034 |
78,984,002 |
RGD:7240710 |
OMIM |
| G |
Lpl |
lipoprotein lipase |
|
|
ISS |
16 |
22,533,105 |
22,556,905 |
RGD:1302536 |
RGD |
| G |
Lpl |
lipoprotein lipase |
|
|
ISS |
16 |
22,533,105 |
22,556,905 |
RGD:1580533 |
RGD |
| G |
Lpl |
lipoprotein lipase |
|
|
ISS |
16 |
22,533,105 |
22,556,905 |
RGD:7240710 |
OMIM |
Hyperlipoproteinemia Type II
|
| G |
Adrb2 |
adrenoceptor beta 2, surface |
|
|
ISS |
18 |
58,174,958 |
58,177,000 |
RGD:1601121 |
RGD |
| G |
Apoa1 |
apolipoprotein A-I |
|
|
ISS |
|
|
|
RGD:1601186 |
RGD |
| G |
Apob |
apolipoprotein B |
|
|
ISS |
6 |
31,508,060 |
31,548,083 |
RGD:1626106 |
RGD |
| G |
Apob |
apolipoprotein B |
|
|
ISS |
6 |
31,508,060 |
31,548,083 |
RGD:1580998 |
RGD |
| G |
Apob |
apolipoprotein B |
|
|
ISS |
6 |
31,508,060 |
31,548,083 |
RGD:1578415 |
RGD |
| G |
Apob |
apolipoprotein B |
|
|
ISS |
6 |
31,508,060 |
31,548,083 |
RGD:7240710 |
OMIM |
| G |
Ldlr |
low density lipoprotein receptor |
|
|
IEA |
8 |
20,824,040 |
20,846,920 |
RGD:1331525 |
RGD |
| G |
Ldlr |
low density lipoprotein receptor |
|
|
ISS |
8 |
20,824,040 |
20,846,920 |
RGD:1581824 |
RGD |
| G |
Ldlr |
low density lipoprotein receptor |
|
|
ISS |
8 |
20,824,040 |
20,846,920 |
RGD:5490248 |
RGD |
| G |
Ldlr |
low density lipoprotein receptor |
|
|
ISS |
8 |
20,824,040 |
20,846,920 |
RGD:7240710 |
OMIM |
| G |
Ldlrap1 |
low density lipoprotein receptor adaptor protein 1 |
|
|
ISS |
5 |
153,504,535 |
153,527,523 |
RGD:1626106 |
RGD |
| G |
Mmp9 |
matrix metallopeptidase 9 |
|
|
ISS |
3 |
155,985,473 |
155,993,433 |
RGD:1642031 |
RGD |
| G |
Mttp |
microsomal triglyceride transfer protein |
|
|
ISS |
2 |
235,613,710 |
235,654,848 |
RGD:1625482 |
RGD |
| G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
|
|
ISS |
5 |
127,501,476 |
127,524,289 |
RGD:1626106 |
RGD |
| G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
|
|
ISS |
5 |
127,501,476 |
127,524,289 |
RGD:1581001 |
RGD |
| G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
|
|
ISS |
5 |
127,501,476 |
127,524,289 |
RGD:1580998 |
RGD |
| G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
|
|
ISS |
5 |
127,501,476 |
127,524,289 |
RGD:1581002 |
RGD |
Hyperlipoproteinemia Type III
|
| G |
Apoc3 |
apolipoprotein C-III |
|
|
ISS |
|
|
|
RGD:1578447 |
RGD |
| 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 |
Hyperlipoproteinemia Type IV
|
| S |
HTG |
Prague hypertriglyceridemic |
|
|
TAS |
|
|
|
RGD:1299960 |
RGD |
Hyperlipoproteinemia Type V
|
| G |
Apoa5 |
apolipoprotein A-V |
|
|
ISS |
8 |
49,253,538 |
49,255,777 |
RGD:7240710 |
OMIM |
Hyperlysinemias
|
| G |
Aass |
aminoadipate-semialdehyde synthase |
|
|
ISS |
4 |
49,479,938 |
49,539,782 |
RGD:7240710 |
OMIM |
Hyperoxaluria, Primary
|
| G |
Grhpr |
glyoxylate reductase/hydroxypyruvate reductase |
|
|
ISS |
5 |
61,536,652 |
61,545,982 |
RGD:1599318 |
RGD |
HYPEROXALURIA, PRIMARY, TYPE III
|
| G |
Hoga1 |
4-hydroxy-2-oxoglutarate aldolase 1 |
|
|
ISS |
1 |
248,779,289 |
248,806,403 |
RGD:7240710 |
OMIM |
Hyperphenylalaninemia, BH4-Deficient, B
|
| G |
Gch1 |
GTP cyclohydrolase 1 |
|
|
ISS |
15 |
23,023,996 |
23,139,794 |
RGD:7240710 |
OMIM |
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
|
| G |
Qdpr |
quinoid dihydropteridine reductase |
|
|
ISS |
14 |
70,741,998 |
70,755,600 |
RGD:7240710 |
OMIM |
Hyperprolinemia
|
| G |
Prodh |
proline dehydrogenase (oxidase) 1 |
|
|
ISS |
11 |
84,905,060 |
84,922,229 |
RGD:7240710 |
OMIM |
| G |
Prodh2 |
proline dehydrogenase (oxidase) 2 |
|
|
ISS |
1 |
85,546,014 |
85,559,530 |
RGD:7240710 |
OMIM |
Hyperprolinemia type 2
|
| G |
Aldh4a1 |
aldehyde dehydrogenase 4 family, member A1 |
|
|
ISS |
5 |
158,437,691 |
158,453,827 |
RGD:7240710 |
OMIM |
Hypoalphalipoproteinemias
|
| G |
Abca1 |
ATP-binding cassette, subfamily A (ABC1), member 1 |
|
|
ISS |
5 |
70,493,357 |
70,583,729 |
RGD:7240710 |
OMIM |
| G |
Apoa1 |
apolipoprotein A-I |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Hypobetalipoproteinemia, Familial, 2
|
| G |
Angptl3 |
angiopoietin-like 3 |
|
|
ISS |
5 |
119,479,669 |
119,484,358 |
RGD:7240710 |
OMIM |
Hypobetalipoproteinemias
|
| G |
Apob |
apolipoprotein B |
|
|
ISS |
6 |
31,508,060 |
31,548,083 |
RGD:1601203 |
RGD |
| G |
Apob |
apolipoprotein B |
|
Susceptibility |
ISS |
6 |
31,508,060 |
31,548,083 |
RGD:1599164 |
RGD |
| G |
Apob |
apolipoprotein B |
|
|
ISS |
6 |
31,508,060 |
31,548,083 |
RGD:7240710 |
OMIM |
| G |
Apoc2 |
apolipoprotein C-II |
|
|
ISS |
1 |
78,979,034 |
78,984,002 |
RGD:1601212 |
RGD |
| G |
Pcsk9 |
proprotein convertase subtilisin/kexin type 9 |
|
|
ISS |
5 |
127,501,476 |
127,524,289 |
RGD:1580999 |
RGD |
Hypokalemic Periodic Paralysis
|
| G |
Cacna1s |
calcium channel, voltage-dependent, L type, alpha 1S subunit |
|
|
ISS |
|
|
|
RGD:704404 |
RGD |
| G |
Cacna1s |
calcium channel, voltage-dependent, L type, alpha 1S subunit |
|
|
ISS |
|
|
|
RGD:1300372 |
RGD |
| G |
Kcne3 |
potassium voltage-gated channel, Isk-related family, member 3 |
|
|
ISS |
1 |
157,558,044 |
157,565,008 |
RGD:1600040 |
RGD |
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
|
| G |
Cacna1s |
calcium channel, voltage-dependent, L type, alpha 1S subunit |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Hypokalemic Periodic Paralysis, Type 2
|
| G |
Scn4a |
sodium channel, voltage-gated, type IV, alpha subunit |
|
|
ISS |
10 |
95,710,710 |
95,760,323 |
RGD:7240710 |
OMIM |
Hypolipoproteinemias
|
| G |
Abca1 |
ATP-binding cassette, subfamily A (ABC1), member 1 |
|
|
ISS |
5 |
70,493,357 |
70,583,729 |
RGD:1600951 |
RGD |
| G |
Apoa1 |
apolipoprotein A-I |
|
|
ISS |
|
|
|
RGD:734583 |
RGD |
| G |
Il1b |
interleukin 1 beta |
|
|
ISS |
3 |
116,964,422 |
116,970,867 |
RGD:1625405 |
RGD |
Hypomagnesemia 1, Intestinal
|
| G |
Trpm6 |
transient receptor potential cation channel, subfamily M, member 6 |
|
|
ISS |
1 |
222,363,324 |
222,502,191 |
RGD:7240710 |
OMIM |
Hypomagnesemia 2, renal
|
| G |
Fxyd2 |
FXYD domain-containing ion transport regulator 2 |
|
|
ISS |
8 |
48,379,075 |
48,385,553 |
RGD:7240710 |
OMIM |
HYPOMAGNESEMIA 3, RENAL
|
| G |
Cldn16 |
claudin 16 |
|
|
ISS |
11 |
76,313,985 |
76,334,074 |
RGD:7240710 |
OMIM |
Hypomagnesemia 4, Renal
|
| G |
Egf |
epidermal growth factor |
|
|
ISS |
2 |
227,103,900 |
227,195,062 |
RGD:7240710 |
OMIM |
Hypomagnesemia 5, Renal, with Ocular Involvement
|
| G |
Cldn19 |
claudin 19 |
|
|
ISS |
5 |
139,838,014 |
139,842,711 |
RGD:7240710 |
OMIM |
Hypomagnesemia primary
|
| G |
Egf |
epidermal growth factor |
|
|
ISS |
2 |
227,103,900 |
227,195,062 |
RGD:6906911 |
RGD |
Hypophosphatasia
|
| G |
Alpl |
alkaline phosphatase, liver/bone/kidney |
|
Susceptibility |
ISS |
5 |
156,501,739 |
156,558,727 |
RGD:1599076 |
RGD |
Hypophosphatasia, Adult
|
| G |
Alpl |
alkaline phosphatase, liver/bone/kidney |
|
|
ISS |
5 |
156,501,739 |
156,558,727 |
RGD:7240710 |
OMIM |
Hypophosphatasia, Childhood
|
| G |
Alpl |
alkaline phosphatase, liver/bone/kidney |
|
|
ISS |
5 |
156,501,739 |
156,558,727 |
RGD:7240710 |
OMIM |
Hypophosphatasia, Infantile
|
| G |
Alpl |
alkaline phosphatase, liver/bone/kidney |
|
|
ISS |
5 |
156,501,739 |
156,558,727 |
RGD:7240710 |
OMIM |
Hypophosphatemia, Familial
|
| G |
Clcn5 |
chloride channel, voltage-sensitive 5 |
|
|
ISS |
X |
27,383,769 |
27,409,877 |
RGD:704404 |
RGD |
| G |
Fgf23 |
fibroblast growth factor 23 |
|
|
TAS |
4 |
163,468,604 |
163,476,325 |
RGD:1303356 |
RGD |
| G |
Fgf23 |
fibroblast growth factor 23 |
|
|
ISS |
4 |
163,468,604 |
163,476,325 |
RGD:1598933 |
RGD |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary
|
| G |
Pth |
parathyroid hormone |
|
|
ISS |
1 |
171,240,596 |
171,243,528 |
RGD:7242924 |
RGD |
| G |
Slc34a1 |
solute carrier family 34 (sodium phosphate), member 1 |
|
|
ISS |
17 |
15,262,929 |
15,277,902 |
RGD:7242925 |
RGD |
| G |
Slc34a1 |
solute carrier family 34 (sodium phosphate), member 1 |
|
|
ISS |
17 |
15,262,929 |
15,277,902 |
RGD:7242924 |
RGD |
| G |
Slc34a3 |
solute carrier family 34 (sodium phosphate), member 3 |
|
|
ISS |
3 |
3,393,502 |
3,399,042 |
RGD:7240710 |
OMIM |
Hypophosphatemic Rickets, Autosomal Dominant
|
| G |
Fgf23 |
fibroblast growth factor 23 |
|
|
ISS |
4 |
163,468,604 |
163,476,325 |
RGD:7240710 |
OMIM |
Hypophosphatemic Rickets, Autosomal Recessive, 1
|
| G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
|
|
ISS |
14 |
6,637,127 |
6,644,100 |
RGD:7240710 |
OMIM |
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
| G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
|
ISS |
1 |
21,223,678 |
21,287,411 |
RGD:6906930 |
RGD |
| G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
|
ISS |
1 |
21,223,678 |
21,287,411 |
RGD:6906931 |
RGD |
| G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
|
ISS |
1 |
21,223,678 |
21,287,411 |
RGD:7240710 |
OMIM |
Hypophosphatemic Rickets, X-Linked Dominant
|
| G |
Bglap |
bone gamma-carboxyglutamate (gla) protein |
|
|
ISS |
2 |
180,482,313 |
180,483,290 |
RGD:7207229 |
RGD |
| G |
Phex |
phosphate regulating endopeptidase homolog, X-linked |
|
|
ISS |
X |
58,911,144 |
59,168,857 |
RGD:7240710 |
OMIM |
Hypophosphatemic Rickets, X-Linked Recessive
|
| G |
Clcn5 |
chloride channel, voltage-sensitive 5 |
|
|
ISS |
X |
27,383,769 |
27,409,877 |
RGD:7240710 |
OMIM |
Hypouricemia, Renal, 2
|
| G |
Slc2a9 |
solute carrier family 2 (facilitated glucose transporter), member 9 |
|
|
ISS |
14 |
77,624,411 |
77,740,695 |
RGD:7240710 |
OMIM |
Ichthyosis, X-Linked
|
| G |
Sts |
steroid sulfatase (microsomal), isozyme S |
|
|
ISS |
X |
63,915,803 |
63,923,834 |
RGD:7240710 |
OMIM |
Iminoglycinuria
|
| G |
Slc36a2 |
solute carrier family 36 (proton/amino acid symporter), member 2 |
|
|
ISS |
10 |
40,562,983 |
40,590,958 |
RGD:7240710 |
OMIM |
| G |
Slc6a19 |
solute carrier family 6 (neutral amino acid transporter), member 19 |
|
|
ISS |
1 |
30,393,331 |
30,412,094 |
RGD:7240710 |
OMIM |
| G |
Slc6a20 |
solute carrier family 6 (proline IMINO transporter), member 20 |
|
|
ISS |
8 |
128,412,080 |
128,452,212 |
RGD:7240710 |
OMIM |
Isobutyryl-CoA dehydrogenase deficiency
|
| G |
Acad8 |
acyl-CoA dehydrogenase family, member 8 |
|
|
ISS |
8 |
26,629,337 |
26,632,170 |
RGD:7240710 |
OMIM |
Jaundice, Chronic Idiopathic
|
| G |
Abcc2 |
ATP-binding cassette, subfamily C (CFTR/MRP), member 2 |
|
|
IED |
|
|
|
RGD:69812 |
RGD |
| G |
Abcc2 |
ATP-binding cassette, subfamily C (CFTR/MRP), member 2 |
|
Susceptibility |
ISS |
|
|
|
RGD:1598616 |
RGD |
| G |
Abcc2 |
ATP-binding cassette, subfamily C (CFTR/MRP), member 2 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Abcc3 |
ATP-binding cassette, subfamily C (CFTR/MRP), member 3 |
|
|
IEP |
10 |
82,986,552 |
83,030,799 |
RGD:1598620 |
RGD |
| G |
Abcc3 |
ATP-binding cassette, subfamily C (CFTR/MRP), member 3 |
|
|
ISS |
10 |
82,986,552 |
83,030,799 |
RGD:1300327 |
RGD |
| G |
Slco1a1 |
solute carrier organic anion transporter family, member 1a1 |
|
Model |
IEP |
|
|
|
RGD:1598620 |
RGD |
| G |
Slco1a4 |
solute carrier organic anion transporter family, member 1a4 |
|
Model |
IEP |
|
|
|
RGD:1598620 |
RGD |
Kanzaki disease
|
| G |
Naga |
N-acetyl galactosaminidase, alpha |
|
|
ISS |
7 |
120,706,129 |
120,714,429 |
RGD:7240710 |
OMIM |
KELLEY-SEEGMILLER SYNDROME
|
| G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
|
|
ISS |
X |
139,929,647 |
139,961,616 |
RGD:7240710 |
OMIM |
Krabbe Disease, Atypical, due to Saposin A Deficiency
|
| G |
Psap |
prosaposin |
|
|
ISS |
20 |
27,595,048 |
27,621,574 |
RGD:7240710 |
OMIM |
L-2-HYDROXYGLUTARIC ACIDURIA
|
| G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
|
|
ISS |
6 |
91,730,715 |
91,771,825 |
RGD:7240710 |
OMIM |
Lactase Deficiency, Congenital
|
| G |
Lct |
lactase |
|
|
ISS |
13 |
40,990,315 |
41,043,388 |
RGD:7240710 |
OMIM |
Lactate dehydrogenase deficiency type A
|
| G |
Ldha |
lactate dehydrogenase A |
|
|
ISS |
1 |
97,403,077 |
97,412,547 |
RGD:7240710 |
OMIM |
Lactose Intolerance, Adult Type
|
| G |
Mcm6 |
minichromosome maintenance complex component 6 |
|
|
ISS |
13 |
41,045,677 |
41,070,868 |
RGD:7240710 |
OMIM |
Lecithin Acyltransferase Deficiency
|
| G |
Lcat |
lecithin cholesterol acyltransferase |
|
|
ISS |
19 |
35,781,507 |
35,784,966 |
RGD:1581778 |
RGD |
| G |
Lcat |
lecithin cholesterol acyltransferase |
|
|
ISS |
19 |
35,781,507 |
35,784,966 |
RGD:7240710 |
OMIM |
Leigh Disease
|
| G |
Bcs1l |
BC1 (ubiquinol-cytochrome c reductase) synthesis-like |
|
|
ISS |
9 |
73,939,024 |
73,943,055 |
RGD:7240710 |
OMIM |
| G |
Cox15 |
cytochrome c oxidase assembly homolog 15 (yeast) |
|
|
ISS |
1 |
247,077,102 |
247,093,757 |
RGD:1598467 |
RGD |
| G |
Cox15 |
cytochrome c oxidase assembly homolog 15 (yeast) |
|
|
ISS |
1 |
247,077,102 |
247,093,757 |
RGD:7240710 |
OMIM |
| G |
Dld |
dihydrolipoamide dehydrogenase |
|
|
ISS |
6 |
49,185,188 |
49,205,894 |
RGD:7240710 |
OMIM |
| G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
|
ISS |
6 |
8,086,606 |
8,168,261 |
RGD:1600674 |
RGD |
| G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
|
ISS |
6 |
8,086,606 |
8,168,261 |
RGD:1600676 |
RGD |
| G |
Mt-nd3 |
mitochondrially encoded NADH dehydrogenase 3 |
|
|
ISS |
MT |
9,451 |
9,798 |
RGD:5507824 |
RGD |
| G |
Mt-nd5 |
mitochondrially encoded NADH dehydrogenase 5 |
|
|
ISS |
MT |
11,736 |
13,565 |
RGD:5491185 |
RGD |
| G |
Mt-nd6 |
mitochondrially encoded NADH dehydrogenase 6 |
|
|
ISS |
MT |
13,543 |
14,061 |
RGD:6482231 |
RGD |
| G |
Ndufa10 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 10 |
|
|
ISS |
9 |
91,655,135 |
91,689,653 |
RGD:7240710 |
OMIM |
| G |
Ndufa12 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 |
|
|
ISS |
7 |
31,349,357 |
31,376,151 |
RGD:7240710 |
OMIM |
| G |
Ndufa2 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 |
|
|
ISS |
18 |
29,441,774 |
29,443,863 |
RGD:7240710 |
OMIM |
| G |
Ndufa9 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 |
|
|
ISS |
4 |
163,208,781 |
163,237,542 |
RGD:7240710 |
OMIM |
| G |
Ndufaf2 |
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 |
|
|
ISS |
2 |
39,269,415 |
39,382,833 |
RGD:7240710 |
OMIM |
| G |
Ndufaf6 |
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 |
|
|
ISS |
5 |
24,893,573 |
24,918,247 |
RGD:7240710 |
OMIM |
| G |
Ndufs2 |
NADH dehydrogenase (ubiquinone) Fe-S protein 2 |
|
|
ISS |
13 |
87,124,431 |
87,137,497 |
RGD:6482269 |
RGD |
| G |
Ndufs3 |
NADH dehydrogenase (ubiquinone) Fe-S protein 3 |
|
|
ISS |
3 |
75,256,383 |
75,263,560 |
RGD:704404 |
RGD |
| G |
Ndufs3 |
NADH dehydrogenase (ubiquinone) Fe-S protein 3 |
|
|
ISS |
3 |
75,256,383 |
75,263,560 |
RGD:7240710 |
OMIM |
| G |
Ndufs4 |
NADH dehydrogenase (ubiquinone) Fe-S protein 4 |
|
|
ISS |
2 |
45,839,236 |
46,479,619 |
RGD:6484669 |
RGD |
| G |
Ndufs4 |
NADH dehydrogenase (ubiquinone) Fe-S protein 4 |
|
|
ISS |
2 |
45,839,236 |
46,479,619 |
RGD:6484662 |
RGD |
| G |
Ndufs4 |
NADH dehydrogenase (ubiquinone) Fe-S protein 4 |
|
|
ISS |
2 |
45,839,236 |
46,479,619 |
RGD:6484698 |
RGD |
| G |
Ndufs4 |
NADH dehydrogenase (ubiquinone) Fe-S protein 4 |
|
|
ISS |
2 |
45,839,236 |
46,479,619 |
RGD:7240710 |
OMIM |
| G |
Ndufs7 |
NADH dehydrogenase (ubiquinone) Fe-S protein 7 |
|
|
ISS |
7 |
10,963,916 |
10,971,188 |
RGD:704404 |
RGD |
| G |
Ndufs7 |
NADH dehydrogenase (ubiquinone) Fe-S protein 7 |
|
|
ISS |
7 |
10,963,916 |
10,971,188 |
RGD:7240710 |
OMIM |
| G |
Ndufs8 |
NADH dehydrogenase (ubiquinone) Fe-S protein 8 |
|
|
ISS |
1 |
206,433,596 |
206,437,478 |
RGD:704404 |
RGD |
| G |
Ndufs8 |
NADH dehydrogenase (ubiquinone) Fe-S protein 8 |
|
|
ISS |
1 |
206,433,596 |
206,437,478 |
RGD:7240710 |
OMIM |
| G |
Ndufv1 |
NADH dehydrogenase (ubiquinone) flavoprotein 1 |
|
|
ISS |
1 |
206,590,023 |
206,595,056 |
RGD:704404 |
RGD |
| G |
Sdha |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
|
|
ISS |
1 |
29,739,359 |
29,764,329 |
RGD:724604 |
RGD |
| G |
Sdha |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
|
|
ISS |
1 |
29,739,359 |
29,764,329 |
RGD:7240710 |
OMIM |
| G |
Surf1 |
surfeit 1 |
|
|
ISS |
3 |
5,810,638 |
5,813,475 |
RGD:634132 |
RGD |
| G |
Surf1 |
surfeit 1 |
|
|
ISS |
3 |
5,810,638 |
5,813,475 |
RGD:1599193 |
RGD |
| G |
Surf1 |
surfeit 1 |
|
|
ISS |
3 |
5,810,638 |
5,813,475 |
RGD:7240710 |
OMIM |
Leigh syndrome , French Canadian type
|
| G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
|
ISS |
6 |
8,086,606 |
8,168,261 |
RGD:7240710 |
OMIM |
Leigh Syndrome, X-Linked
|
| G |
Pdha1 |
pyruvate dehydrogenase (lipoamide) alpha 1 |
|
|
ISS |
X |
55,899,491 |
55,913,319 |
RGD:7240710 |
OMIM |
Lesch-Nyhan Syndrome
|
| G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
|
|
ISS |
X |
139,929,647 |
139,961,616 |
RGD:7240710 |
OMIM |
Leukodystrophy, Globoid Cell
|
| G |
Galc |
galactosylceramidase |
|
|
ISS |
6 |
122,355,659 |
122,416,986 |
RGD:7240710 |
OMIM |
Leukodystrophy, Hypomyelinating, 2
|
| G |
Gjc2 |
gap junction protein, gamma 2 |
|
|
ISS |
10 |
45,480,937 |
45,488,651 |
RGD:7240710 |
OMIM |
Leukodystrophy, Hypomyelinating, 4
|
| G |
Hspd1 |
heat shock protein 1 (chaperonin) |
|
|
ISS |
9 |
53,884,193 |
53,895,043 |
RGD:7240710 |
OMIM |
Leukodystrophy, Hypomyelinating, 5
|
| G |
Fam126a |
family with sequence similarity 126, member A |
|
|
ISS |
4 |
6,500,425 |
6,559,978 |
RGD:7240710 |
OMIM |
Leukodystrophy, Metachromatic
|
| G |
Arsa |
arylsulfatase A |
|
|
ISS |
7 |
127,790,208 |
127,792,734 |
RGD:1358435 |
RGD |
| G |
Arsa |
arylsulfatase A |
|
|
ISS |
7 |
127,790,208 |
127,792,734 |
RGD:1358434 |
RGD |
| G |
Arsa |
arylsulfatase A |
|
|
ISS |
7 |
127,790,208 |
127,792,734 |
RGD:7240710 |
OMIM |
| G |
Mal |
mal, T-cell differentiation protein |
|
|
ISS |
3 |
115,166,671 |
115,190,432 |
RGD:1358761 |
RGD |
Liddle Syndrome
|
| G |
Scnn1b |
sodium channel, nonvoltage-gated 1, beta |
|
|
ISS |
1 |
180,682,622 |
180,748,068 |
RGD:7240710 |
OMIM |
| G |
Scnn1g |
sodium channel, nonvoltage-gated 1, gamma |
|
|
ISS |
1 |
180,555,660 |
180,589,534 |
RGD:7240710 |
OMIM |
Lipase deficiency combined
|
| G |
Lmf1 |
lipase maturation factor 1 |
|
|
ISS |
10 |
14,831,884 |
14,918,491 |
RGD:7240710 |
OMIM |
Lipid Metabolism, Inborn Errors
|
| G |
Abcg5 |
ATP-binding cassette, subfamily G (WHITE), member 5 |
|
|
ISS |
6 |
8,027,647 |
8,064,425 |
RGD:1300331 |
RGD |
| G |
Abcg8 |
ATP-binding cassette, subfamily G (WHITE), member 8 |
|
|
ISS |
6 |
8,064,631 |
8,083,271 |
RGD:631968 |
RGD |
| G |
Apoc2 |
apolipoprotein C-II |
|
No_Association |
ISS |
1 |
78,979,034 |
78,984,002 |
RGD:1601206 |
RGD |
| G |
Cpt1a |
carnitine palmitoyltransferase 1a, liver |
|
|
ISS |
1 |
205,852,800 |
205,912,972 |
RGD:1600732 |
RGD |
| G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
|
ISS |
5 |
129,007,685 |
129,025,501 |
RGD:1600742 |
RGD |
| G |
Dhcr24 |
24-dehydrocholesterol reductase |
|
|
ISS |
5 |
127,637,438 |
127,662,621 |
RGD:1600897 |
RGD |
| G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
|
|
ISS |
18 |
45,157,435 |
45,251,606 |
RGD:1599968 |
RGD |
| G |
Lipc |
lipase, hepatic |
|
|
ISS |
8 |
75,323,442 |
75,450,353 |
RGD:7240710 |
OMIM |
| G |
Lpl |
lipoprotein lipase |
|
|
ISS |
16 |
22,533,105 |
22,556,905 |
RGD:7240710 |
OMIM |
| G |
Mvk |
mevalonate kinase |
|
|
ISS |
|
|
|
RGD:1600528 |
RGD |
| G |
Npy5r |
neuropeptide Y receptor Y5 |
|
Susceptibility |
ISS |
16 |
24,765,175 |
24,773,132 |
RGD:1625492 |
RGD |
| G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
|
ISS |
7 |
123,729,774 |
123,807,090 |
RGD:1580230 |
RGD |
| G |
Slc25a20 |
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 |
|
|
ISS |
8 |
113,715,211 |
113,737,063 |
RGD:7240710 |
OMIM |
Lipidoses
|
| G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
|
IEP |
10 |
46,461,684 |
46,483,646 |
RGD:2308821 |
RGD |
| G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
|
|
IEP |
7 |
120,522,511 |
120,580,212 |
RGD:2308821 |
RGD |
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
|
| G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
|
|
ISS |
3 |
4,769,863 |
4,781,045 |
RGD:7240710 |
OMIM |
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
|
| G |
Bscl2 |
Berardinelli-Seip congenital lipodystrophy 2 (seipin) |
|
|
ISS |
1 |
211,509,675 |
211,518,963 |
RGD:7240710 |
OMIM |
Lipodystrophy, Congenital Generalized, Type 3
|
| G |
Cav1 |
caveolin 1, caveolae protein |
|
|
ISS |
4 |
42,956,102 |
42,989,057 |
RGD:7240710 |
OMIM |
Lipodystrophy, Congenital Generalized, Type 4
|
| G |
Ptrf |
polymerase I and transcript release factor |
|
|
ISS |
10 |
89,893,481 |
89,905,343 |
RGD:7240710 |
OMIM |
Lipoid congenital adrenal hyperplasia
|
| G |
Star |
steroidogenic acute regulatory protein |
|
|
ISS |
16 |
70,642,580 |
70,647,203 |
RGD:7240710 |
OMIM |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
|
| G |
Hadha |
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit |
|
|
ISS |
6 |
26,173,798 |
26,191,433 |
RGD:7240710 |
OMIM |
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
|
| G |
Clcn5 |
chloride channel, voltage-sensitive 5 |
|
|
ISS |
X |
27,383,769 |
27,409,877 |
RGD:7240710 |
OMIM |
Lysinuric Protein Intolerance
|
| G |
Slc7a7 |
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 |
|
|
ISS |
15 |
32,431,748 |
32,471,526 |
RGD:7240710 |
OMIM |
Lysosomal acid lipase deficiency
|
| G |
Lipa |
lipase A, lysosomal acid, cholesterol esterase |
|
|
ISS |
1 |
238,466,493 |
238,500,195 |
RGD:7240710 |
OMIM |
Lysosomal Storage Diseases
|
| G |
Aga |
aspartylglucosaminidase |
|
Susceptibility |
ISS |
16 |
41,383,536 |
41,395,394 |
RGD:1598773 |
RGD |
| G |
Ctsa |
cathepsin A |
|
|
ISS |
3 |
155,866,335 |
155,871,998 |
RGD:1599169 |
RGD |
Malonic aciduria
|
| G |
Mlycd |
malonyl-CoA decarboxylase |
|
|
ISS |
19 |
49,637,193 |
49,653,016 |
RGD:7240710 |
OMIM |
Maple Syrup Urine Disease
|
| G |
Acadm |
acyl-CoA dehydrogenase, C-4 to C-12 straight chain |
|
|
ISS |
2 |
251,866,645 |
251,890,729 |
RGD:1300334 |
RGD |
| G |
Bcat2 |
branched chain amino acid transaminase 2, mitochondrial |
|
|
ISS |
1 |
96,038,287 |
96,055,622 |
RGD:1300291 |
RGD |
| G |
Bckdha |
branched chain ketoacid dehydrogenase E1, alpha polypeptide |
|
|
ISS |
1 |
80,837,906 |
80,866,672 |
RGD:737779 |
RGD |
| G |
Bckdha |
branched chain ketoacid dehydrogenase E1, alpha polypeptide |
|
|
ISS |
1 |
80,837,906 |
80,866,672 |
RGD:7240710 |
OMIM |
| G |
Bckdhb |
branched chain keto acid dehydrogenase E1, beta polypeptide |
|
|
ISS |
8 |
88,997,979 |
89,191,017 |
RGD:1599466 |
RGD |
| G |
Bckdhb |
branched chain keto acid dehydrogenase E1, beta polypeptide |
|
|
ISS |
8 |
88,997,979 |
89,191,017 |
RGD:7240710 |
OMIM |
| G |
Dbt |
dihydrolipoamide branched chain transacylase E2 |
|
|
ISS |
2 |
212,759,312 |
212,788,180 |
RGD:734877 |
RGD |
| G |
Dbt |
dihydrolipoamide branched chain transacylase E2 |
|
|
ISS |
2 |
212,759,312 |
212,788,180 |
RGD:7240710 |
OMIM |
| G |
Dld |
dihydrolipoamide dehydrogenase |
|
|
ISS |
6 |
49,185,188 |
49,205,894 |
RGD:7240710 |
OMIM |
Maternally Inherited Leigh Syndrome
|
| G |
Mt-atp6 |
mitochondrially encoded ATP synthase 6 |
|
|
ISS |
MT |
7,919 |
8,599 |
RGD:5490262 |
RGD |
| G |
Mt-atp6 |
mitochondrially encoded ATP synthase 6 |
|
|
ISS |
MT |
7,919 |
8,599 |
RGD:5490270 |
RGD |
| G |
Mt-atp6 |
mitochondrially encoded ATP synthase 6 |
|
|
ISS |
MT |
7,919 |
8,599 |
RGD:5490291 |
RGD |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
|
ISS |
MT |
2,740 |
3,694 |
RGD:5148009 |
RGD |
Medium chain acyl CoA dehydrogenase deficiency
|
| G |
Acadm |
acyl-CoA dehydrogenase, C-4 to C-12 straight chain |
|
|
ISS |
2 |
251,866,645 |
251,890,729 |
RGD:7240710 |
OMIM |
Megalencephalic leukoencephalopathy with subcortical cysts
|
| G |
Mlc1 |
megalencephalic leukoencephalopathy with subcortical cysts 1 |
|
|
ISS |
7 |
127,265,491 |
127,288,102 |
RGD:7240710 |
OMIM |
MELAS Syndrome
|
| G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
|
ISS |
MT |
8,599 |
9,382 |
RGD:5491184 |
RGD |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
|
ISS |
MT |
2,740 |
3,694 |
RGD:5490235 |
RGD |
| G |
Mt-nd5 |
mitochondrially encoded NADH dehydrogenase 5 |
|
|
ISS |
MT |
11,736 |
13,565 |
RGD:5491173 |
RGD |
| G |
Mt-nd5 |
mitochondrially encoded NADH dehydrogenase 5 |
|
|
ISS |
MT |
11,736 |
13,565 |
RGD:5491184 |
RGD |
| G |
Mt-nd5 |
mitochondrially encoded NADH dehydrogenase 5 |
|
|
ISS |
MT |
11,736 |
13,565 |
RGD:5507825 |
RGD |
Menkes Kinky Hair Syndrome
|
| G |
Atp7a |
ATPase, Cu++ transporting, alpha polypeptide |
|
|
ISS |
X |
94,192,540 |
94,249,776 |
RGD:734621 |
RGD |
| G |
Atp7a |
ATPase, Cu++ transporting, alpha polypeptide |
|
|
ISS |
X |
94,192,540 |
94,249,776 |
RGD:7240710 |
OMIM |
| G |
Lox |
lysyl oxidase |
|
|
ISS |
18 |
47,896,674 |
47,970,829 |
RGD:1581895 |
RGD |
| S |
ACI/N |
A X C 9935, Irish |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
Metabolism, Inborn Errors
|
| G |
Acaca |
acetyl-CoA carboxylase alpha |
|
|
ISS |
10 |
72,483,772 |
72,677,134 |
RGD:7240710 |
OMIM |
| G |
Bche |
butyrylcholinesterase |
|
Susceptibility |
ISS |
2 |
164,329,613 |
164,427,994 |
RGD:1601328 |
RGD |
| G |
Bche |
butyrylcholinesterase |
|
|
ISS |
2 |
164,329,613 |
164,427,994 |
RGD:7240710 |
OMIM |
| G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
|
ISS |
|
|
|
RGD:1600830 |
RGD |
| G |
Cyp7b1 |
cytochrome P450, family 7, subfamily b, polypeptide 1 |
|
|
ISS |
2 |
103,102,679 |
103,271,273 |
RGD:7240710 |
OMIM |
| G |
Ddc |
dopa decarboxylase (aromatic L-amino acid decarboxylase) |
|
|
ISS |
14 |
92,698,636 |
92,788,635 |
RGD:5128849 |
RGD |
| G |
Decr1 |
2,4-dienoyl CoA reductase 1, mitochondrial |
|
|
ISS |
5 |
30,492,196 |
30,520,172 |
RGD:7240710 |
OMIM |
| G |
Dhfr |
dihydrofolate reductase |
|
|
ISS |
2 |
22,607,093 |
22,828,487 |
RGD:7240710 |
OMIM |
| G |
Dio1 |
deiodinase, iodothyronine, type I |
|
|
ISS |
5 |
128,385,702 |
128,404,015 |
RGD:7240710 |
OMIM |
| G |
Esr1 |
estrogen receptor 1 |
|
|
ISS |
1 |
35,523,680 |
35,759,891 |
RGD:1601096 |
RGD |
| G |
Fmo3 |
flavin containing monooxygenase 3 |
|
|
ISS |
13 |
78,659,513 |
78,678,524 |
RGD:1626461 |
RGD |
| G |
Gphn |
gephyrin |
|
|
ISS |
6 |
100,833,004 |
101,302,957 |
RGD:1558665 |
RGD |
| G |
H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
|
|
ISS |
5 |
167,093,827 |
167,125,298 |
RGD:1625067 |
RGD |
| G |
Hagh |
hydroxyacyl glutathione hydrolase |
|
|
ISS |
10 |
14,106,047 |
14,117,459 |
RGD:7240710 |
OMIM |
| G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
|
ISS |
2 |
27,127,504 |
27,149,580 |
RGD:7240710 |
OMIM |
| G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
|
ISS |
13 |
109,063,491 |
109,089,468 |
RGD:1625067 |
RGD |
| G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
|
ISS |
19 |
35,336,342 |
35,341,585 |
RGD:1625078 |
RGD |
| G |
Itpa |
inosine triphosphatase (nucleoside triphosphate pyrophosphatase) |
|
|
ISS |
3 |
118,298,330 |
118,310,110 |
RGD:7240710 |
OMIM |
| G |
Klk1 |
kallikrein 1 |
|
|
ISS |
1 |
94,624,828 |
94,628,822 |
RGD:7240710 |
OMIM |
| G |
Ldhb |
lactate dehydrogenase B |
|
|
ISS |
4 |
180,061,567 |
180,079,473 |
RGD:7240710 |
OMIM |
| G |
Lig1 |
ligase I, DNA, ATP-dependent |
|
|
ISS |
1 |
73,728,892 |
73,767,429 |
RGD:1600089 |
RGD |
| G |
Ltc4s |
leukotriene C4 synthase |
|
|
ISS |
10 |
35,786,877 |
35,788,838 |
RGD:7240710 |
OMIM |
| G |
Mmab |
methylmalonic aciduria (cobalamin deficiency) cblB type |
|
|
ISS |
|
|
|
RGD:1600420 |
RGD |
| G |
Mocs1 |
molybdenum cofactor synthesis 1 |
|
|
ISS |
9 |
6,759,531 |
6,779,930 |
RGD:1558665 |
RGD |
| G |
Mocs1 |
molybdenum cofactor synthesis 1 |
|
|
ISS |
9 |
6,759,531 |
6,779,930 |
RGD:1624402 |
RGD |
| G |
Mocs1 |
molybdenum cofactor synthesis 1 |
|
|
ISS |
9 |
6,759,531 |
6,779,930 |
RGD:1600439 |
RGD |
| G |
Mocs2 |
molybdenum cofactor synthesis 2 |
|
|
ISS |
2 |
46,948,321 |
46,960,060 |
RGD:1558665 |
RGD |
| G |
Mocs2 |
molybdenum cofactor synthesis 2 |
|
|
ISS |
2 |
46,948,321 |
46,960,060 |
RGD:1556492 |
RGD |
| G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase |
|
|
ISS |
6 |
98,849,446 |
98,916,936 |
RGD:7240710 |
OMIM |
| G |
Nat2 |
N-acetyltransferase 2 (arylamine N-acetyltransferase) |
|
|
ISS |
16 |
23,855,555 |
23,876,531 |
RGD:7240710 |
OMIM |
| G |
Ndufs1 |
NADH dehydrogenase (ubiquinone) Fe-S protein 1 |
|
|
ISS |
9 |
61,798,141 |
61,831,964 |
RGD:1556706 |
RGD |
| G |
Ndufs2 |
NADH dehydrogenase (ubiquinone) Fe-S protein 2 |
|
|
ISS |
13 |
87,124,431 |
87,137,497 |
RGD:1600573 |
RGD |
| G |
Pla2g4a |
phospholipase A2, group IVA (cytosolic, calcium-dependent) |
|
|
ISS |
13 |
64,135,729 |
64,280,815 |
RGD:7240710 |
OMIM |
| G |
Slc22a5 |
solute carrier family 22 (organic cation/carnitine transporter), member 5 |
|
|
ISS |
10 |
39,311,729 |
39,338,718 |
RGD:1624241 |
RGD |
| G |
Suox |
sulfite oxidase |
|
Susceptibility |
ISS |
7 |
1,973,471 |
1,976,040 |
RGD:1600121 |
RGD |
| G |
Tbx19 |
T-box 19 |
|
|
ISS |
13 |
80,890,762 |
80,913,604 |
RGD:1599334 |
RGD |
| G |
Uqcrb |
ubiquinol-cytochrome c reductase binding protein |
|
|
ISS |
7 |
67,958,363 |
67,963,730 |
RGD:1599707 |
RGD |
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
| G |
Psap |
prosaposin |
|
|
ISS |
20 |
27,595,048 |
27,621,574 |
RGD:7240710 |
OMIM |
Metal Metabolism, Inborn Errors
|
| G |
Trpm6 |
transient receptor potential cation channel, subfamily M, member 6 |
|
|
ISS |
1 |
222,363,324 |
222,502,191 |
RGD:1599669 |
RGD |
Methionine Adenosyltransferase Deficiency
|
| G |
Mat1a |
methionine adenosyltransferase I, alpha |
|
|
ISS |
16 |
17,548,582 |
17,563,989 |
RGD:1599915 |
RGD |
| G |
Mat1a |
methionine adenosyltransferase I, alpha |
|
|
ISS |
16 |
17,548,582 |
17,563,989 |
RGD:7240710 |
OMIM |
Methylmalonic acidemia with homocystinuria
|
| G |
Mmachc |
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
|
|
ISS |
5 |
136,995,231 |
137,001,367 |
RGD:7240710 |
OMIM |
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
| G |
Mmadhc |
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria |
|
|
ISS |
3 |
31,224,132 |
31,242,473 |
RGD:7240710 |
OMIM |
Methylmalonic Aciduria and Homocystinuria, CblF Type
|
| G |
Lmbrd1 |
LMBR1 domain containing 1 |
|
|
ISS |
9 |
23,426,569 |
23,511,388 |
RGD:7240710 |
OMIM |
Methylmalonic aciduria cblA type
|
| G |
Mmaa |
methylmalonic aciduria (cobalamin deficiency) cblA type |
|
|
ISS |
19 |
30,455,554 |
30,487,154 |
RGD:7240710 |
OMIM |
Methylmalonic aciduria cblB type
|
| G |
Mmab |
methylmalonic aciduria (cobalamin deficiency) cblB type |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
| G |
Mut |
methylmalonyl CoA mutase |
|
|
ISS |
9 |
16,065,495 |
16,093,956 |
RGD:7240710 |
OMIM |
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
|
| G |
Cd320 |
CD320 molecule |
|
|
ISS |
7 |
16,338,136 |
16,343,892 |
RGD:7240710 |
OMIM |
Methylmalonyl-CoA Epimerase Deficiency
|
| G |
Mcee |
methylmalonyl CoA epimerase |
|
|
ISS |
1 |
118,832,889 |
118,856,087 |
RGD:7240710 |
OMIM |
Mevalonate Kinase Deficiency
|
| G |
Mvk |
mevalonate kinase |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Microvillus inclusion disease
|
| G |
Myo5b |
myosin Vb |
|
|
ISS |
18 |
71,381,068 |
71,580,824 |
RGD:7240710 |
OMIM |
MITOCHONDRIAL COMPLEX IV DEFICIENCY
|
| G |
Coa5 |
cytochrome C oxidase assembly factor 5 |
|
|
ISS |
9 |
36,365,008 |
36,375,515 |
RGD:7240710 |
OMIM |
| G |
Cox14 |
COX14 cytochrome c oxidase assembly |
|
|
ISS |
7 |
138,451,395 |
138,469,295 |
RGD:7240710 |
OMIM |
| G |
Cox6b1 |
cytochrome c oxidase subunit VIb polypeptide 1 |
|
|
ISS |
1 |
85,669,891 |
85,677,195 |
RGD:7240710 |
OMIM |
| G |
Fastkd2 |
FAST kinase domains 2 |
|
|
ISS |
9 |
62,416,429 |
62,438,600 |
RGD:7240710 |
OMIM |
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC ACIDURIA)
|
| G |
Sucla2 |
succinate-CoA ligase, ADP-forming, beta subunit |
|
|
ISS |
15 |
54,214,262 |
54,267,830 |
RGD:7240710 |
OMIM |
Molybdenum cofactor deficiency
|
| G |
Gphn |
gephyrin |
|
|
ISS |
6 |
100,833,004 |
101,302,957 |
RGD:7240710 |
OMIM |
| G |
Mocs1 |
molybdenum cofactor synthesis 1 |
|
|
ISS |
9 |
6,759,531 |
6,779,930 |
RGD:7240710 |
OMIM |
| G |
Mocs2 |
molybdenum cofactor synthesis 2 |
|
|
ISS |
2 |
46,948,321 |
46,960,060 |
RGD:7240710 |
OMIM |
Mucolipidoses
|
| G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase, gamma subunit |
|
|
ISS |
10 |
14,482,982 |
14,487,901 |
RGD:1599045 |
RGD |
| G |
Mcoln1 |
mucolipin 1 |
|
|
ISS |
12 |
2,640,030 |
2,653,923 |
RGD:1599926 |
RGD |
| G |
Neu1 |
neuraminidase 1 |
|
|
ISS |
20 |
3,999,317 |
4,003,800 |
RGD:704404 |
RGD |
MUCOLIPIDOSIS II ALPHA/BETA
|
| G |
Gnptab |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits |
|
|
ISS |
7 |
25,084,137 |
25,149,880 |
RGD:7240710 |
OMIM |
MUCOLIPIDOSIS III ALPHA/BETA
|
| G |
Gnptab |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits |
|
|
ISS |
7 |
25,084,137 |
25,149,880 |
RGD:7240710 |
OMIM |
MUCOLIPIDOSIS IV
|
| G |
Mcoln1 |
mucolipin 1 |
|
|
ISS |
12 |
2,640,030 |
2,653,923 |
RGD:7240710 |
OMIM |
Mucopolysaccharidoses
|
| G |
Gusb |
glucuronidase, beta |
|
|
ISS |
12 |
27,744,409 |
27,757,755 |
RGD:704404 |
RGD |
| G |
Hyal1 |
hyaluronoglucosaminidase 1 |
|
|
ISS |
8 |
112,824,562 |
112,826,875 |
RGD:1599811 |
RGD |
Mucopolysaccharidosis I
|
| G |
Idua |
iduronidase, alpha-L- |
|
|
ISS |
|
|
|
RGD:1599894 |
RGD |
| G |
Idua |
iduronidase, alpha-L- |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Mucopolysaccharidosis II
|
| G |
Ids |
iduronate 2-sulfatase |
|
|
ISS |
X |
156,641,266 |
156,661,031 |
RGD:1599819 |
RGD |
| G |
Ids |
iduronate 2-sulfatase |
|
|
ISS |
X |
156,641,266 |
156,661,031 |
RGD:7240710 |
OMIM |
Mucopolysaccharidosis III
|
| G |
Coasy |
CoA synthase |
|
Susceptibility |
ISS |
10 |
90,099,616 |
90,103,476 |
RGD:1642057 |
RGD |
| G |
Gns |
glucosamine (N-acetyl)-6-sulfatase |
|
|
ISS |
7 |
60,672,492 |
60,702,306 |
RGD:1599248 |
RGD |
| G |
Gns |
glucosamine (N-acetyl)-6-sulfatase |
|
|
ISS |
7 |
60,672,492 |
60,702,306 |
RGD:7240710 |
OMIM |
| G |
Naglu |
N-acetylglucosaminidase, alpha |
|
|
ISS |
10 |
90,085,836 |
90,093,926 |
RGD:7241012 |
RGD |
| G |
Naglu |
N-acetylglucosaminidase, alpha |
|
|
ISS |
10 |
90,085,836 |
90,093,926 |
RGD:7241016 |
RGD |
| G |
Naglu |
N-acetylglucosaminidase, alpha |
|
|
ISS |
10 |
90,085,836 |
90,093,926 |
RGD:7241018 |
RGD |
| G |
Naglu |
N-acetylglucosaminidase, alpha |
|
|
ISS |
10 |
90,085,836 |
90,093,926 |
RGD:7241013 |
RGD |
| G |
Naglu |
N-acetylglucosaminidase, alpha |
|
|
ISS |
10 |
90,085,836 |
90,093,926 |
RGD:7240710 |
OMIM |
Mucopolysaccharidosis IV
|
| G |
Galns |
galactosamine (N-acetyl)-6-sulfate sulfatase |
|
|
ISS |
19 |
52,859,282 |
52,890,422 |
RGD:704404 |
RGD |
| G |
Galns |
galactosamine (N-acetyl)-6-sulfate sulfatase |
|
|
ISS |
19 |
52,859,282 |
52,890,422 |
RGD:7240710 |
OMIM |
| G |
Glb1 |
galactosidase, beta 1 |
|
|
ISS |
8 |
118,791,550 |
118,864,281 |
RGD:1598984 |
RGD |
| G |
Glb1 |
galactosidase, beta 1 |
|
|
ISS |
8 |
118,791,550 |
118,864,281 |
RGD:7240710 |
OMIM |
MUCOPOLYSACCHARIDOSIS TYPE IX
|
| G |
Hyal1 |
hyaluronoglucosaminidase 1 |
|
|
ISS |
8 |
112,824,562 |
112,826,875 |
RGD:7240710 |
OMIM |
Mucopolysaccharidosis VI
|
| G |
Arsb |
arylsulfatase B |
|
Susceptibility |
IAGP |
2 |
24,067,560 |
24,223,821 |
RGD:631738 |
RGD |
| G |
Arsb |
arylsulfatase B |
|
|
ISS |
2 |
24,067,560 |
24,223,821 |
RGD:7240710 |
OMIM |
Mucopolysaccharidosis VII
|
| G |
Gusb |
glucuronidase, beta |
|
|
ISS |
12 |
27,744,409 |
27,757,755 |
RGD:7240710 |
OMIM |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
| G |
Etfa |
electron-transfer-flavoprotein, alpha polypeptide |
|
|
ISS |
8 |
59,013,798 |
59,072,013 |
RGD:7240710 |
OMIM |
| G |
Etfb |
electron-transfer-flavoprotein, beta polypeptide |
|
|
ISS |
1 |
93,820,124 |
93,834,288 |
RGD:7240710 |
OMIM |
| G |
| |