Spreadsheet: 6297a1a3-6ec2-48cb-b0f1-3f71917d602c
Sheet: Sheet1

Disorder | Disorder OMIM# | GENE | Gene  OMIM * | Locus | COORDINATES
Progressive Familial Intrahepatic Cholestasis 2 (PFIC2) | #601847 | ABCB11 | *603201 | 2q24 | Chr. 2: 169,487,694-169,596,079
Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) | #602347 | ABCB4 | *171060 | 7q21.1 | Chr. 7: 86,869,302-86,942,991
X-Linked Sideroblastic Anemia and Spinocerebellar Ataxia | #301310 | ABCB7 | *300135 | Xq13.1-q13.3 | Chr. X: 74,189,834-74,292,857
Long Chain Acyl-CoA Dehydrogenase Dificiency (LCAD) | #201460 | ACADL | *609576 | 2q34-q35 | Chr. 2: 210,760,963-210,798,405
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) | #201450 | ACADM | *607008 | 1p31 | Chr. 1: 75,962,982-76,001,763
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) | #201470 | ACADS | *606885 | 12q22-qter | Chr. 12: 119,648,025-119,662,193
Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency (SBCAD) | #610006 | ACADSB | *600301 | 10q25-q26 | Chr. 10: 124,758,419-124,807,796
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) | #201475 | [NAME] | *609575 | 17p13 | Chr. 17: 7,063,877-7,069,308
Mitochondrial Adenylate Kinase-2 |  | AK2 | *103020 | 1p34 | Chr. 1: 33,246,173-33,275,079
Hereditary Fructose Intolerance | #229600 | ALDOB | *612724 | 9q22.3 | Chr. 9: 103,223,480-103,237,926
[NAME] with Oculomotor Apraxia 1 (AOA1) | #208920 | APTX | *606350 | 9p13.3 | Chr. 9: 32,962,609-32,991,626
Arginase Deficiency | #207800 | [NAME] | *608313 | 6q23 | Chr. 6: 131,936,058-131,947,161
[NAME] | #207900 | ASL | *608310 | 7cen-q11.2 | Chr. 7: 65,178,249-65,195,375
[NAME] | #215700 | ASS1 | *603470 | 9q34.1 | Chr. 9: 132,310,170-132,366,482
 |  | ATP12A | *182360 | 13q12.1-q12.3 | Chr. 13: 24,152,695-24,183,918
Progressive Familial Intrahepatic Cholestasis 1 (PFIC1) | #211600 | ATP8B1 | *602397 | 18q21 | Chr. 18: 53,464,656-53,550,037
Mitochondrial Respiratory Chain Deficiency, [NAME] | #604273 | ATPAF2 | *608918 | 17p11.2 | Chr. 17: 17,862,059-17,883,205
3-Methylglutaconic Aciduria (MGA) Type I | #250950 | AUH | *600529 | 9 | Chr. 9: 93,015,926-93,163,996
[NAME], Type 1a | #248600 | BCKDHA | *608348 | 19q13.1-q13.2 | Chr. 19: 46,595,544-46,622,749
Gracile Syndrome | #603358 | BCS1L | *603647 | 2q33 | Chr. 2: 219,232,676-219,236,410
Leigh Syndrome (nuclear genes) | #256000 | BCS1L | *603647 | 2q33 | Chr. 2: 219,232,676-219,236,410
Mitochondrial Respiratory Chain [NAME], BCS1L Related | #124000 | BCS1L | *603647 | 2q33 | Chr. 2: 219,232,676-219,236,410
Biotinidase Deficiency | #253260 | BTD | *609019 | 3p25 | Chr. 3: 15,618,259-15,662,328
Mitochondrial Complex I Deficiency | #252010 | C6orf66 | *611776 | 6q16.1 | Chr. 6: 97,445,612-97,452,476
Homocystinuria, [NAME] Deficiency |  | CBS | *236200 | 21q22.3 | Chr. 21: 43,346,370-43,369,541
Cardiomyopathy-associated protein 5 |  | CMYA5 | *612193 | 5q12-q13 | Chr. 5: 79,021,415-79,131,804
Coenzyme Q10 Deficiency | #607426 | [NAME] | *609825 | [NAME] | Chr. 4: 84,404,003-84,425,091
Coenzyme Q10 Deficiency (CABC1) | #607426 | COQ8 | *606980 | 1q42.2 | Chr. 1: 225,194,561-225,241,869
[NAME] (CABC1) | #612016 | COQ8 | *606980 | 1q42.2 | Chr. 1: 225,194,561-225,241,869
Leigh Syndrome (nuclear genes) | #256000 | [NAME] | *602125 | 17p12-p11.2 | Chr. 17: 13,913,444-14,052,712
Mitochondrial Respiratory Chain [NAME] (nuclear genes) | #220110 | [NAME] | *602125 | 17p12-p11.2 | Chr. 17: 13,913,444-14,052,712
 |  | COX11 | *603648 | 17q22 | Chr. 17: 50,384,266-50,401,053
Leigh Syndrome (nuclear genes) | #256000 | [NAME] | *603646 | 10q24 | Chr. 10: 101,461,596-101,481,890
Mitochondrial Respiratory Chain [NAME] (nuclear genes) | #220110 | [NAME] | *603646 | 10q24 | Chr. 10: 101,461,596-101,481,890
 |  | COX17 | *604813 | 3q | Chr. 3: 120,871,062-120,878,933
Exocrine Pancreatic Insufficiency | #612714 | COX4I2 | *607976 | 20q11.21 | Chr. 20: 29,689,352-29,696,461
 |  | COX5B | *123866 | 2cen-q13 | Chr. 2: 97,628,953-97,631,086
 |  | COX6A1 | *602072 | 12q24.2 | Chr. 12: 119,360,287-119,362,915
 |  | COX6A2 | *602009 | 16p11-p12 | Chr. 16: 31,346,556-31,347,222
Mitochondrial Respiratory Chain [NAME] (nuclear genes) | #220110 | COX6B1 | *124089 | 19q13.1 | Chr. 19: 40,830,995-40,841,523
 |  | COX6B2 |  | 19q13.42 | Chr. 19: 60,552,888-60,557,994
 |  | COX6C | *124090 | 8q22-q23 | Chr. 8: 100,959,548-100,975,071
 |  | COX7A1 | *123995 | 19q13.12 | Chr. 19: 41,333,664-41,335,611
 |  | COX7A2 | *123996 | 6q12 | Chr. 6: 76,004,223-76,010,245
 |  | COX7A2L | *605771 | 2 | Chr. 2: 42,431,146-42,441,860
 |  | COX7B | *603792 | Xq21.1 | Chr. X: 77,041,627-77,047,537
 |  | COX7B2 | *609811 | 4p12 | Chr. 4: 46,431,606-46,606,009
Carbamoyl-phosphate Synthetase I Deficiency | #237300 | CPS1 | *608307 | 2q35 | Chr. 2: 211,129,583-211,252,074
Carnitine Palmitoyltransferase IA Deficiency | #255120 | CPT1A | *600528 | 11q13 | Chr. 11: 68,278,666-68,365,850
 |  | CPT1B | *601987 | 22qter | Chr. 22: 49,354,156-49,363,744
Carnitine Palmitoyltransferase II Deficiency, Late Onset | #255110 | CPT2 | *600650 | 1p32 | Chr. 1: 53,434,689-53,452,455
Carnitine Palmitoyltransferase II Deficiency, Infantile | #600649 | CPT2 | *600650 | 1p32 | Chr. 1: 53,434,689-53,452,455
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal | #608836 | CPT2 | *600650 | 1p32 | Chr. 1: 53,434,689-53,452,455
Thrombocytopenia; autosomal dominant, 4 | #612004 | CYCS | *123970 | 7p15.2 | Chr. 7: 25,124,802-25,131,480
 |  | DAP3 (MRPS29) | *602074 | 1q21 | Chr. 1: 153,925,506-153,974,941
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | #611105 | DARS2 | *610956 | 1q25.1 | Chr. 1: 172,060,581-172,094,305
[NAME], Type II | #248600 | DBT | *248610 | 1p31 | Chr. 1: 100,425,072-100,487,997
Mitochondrial  DNA Depletion Syndrome, Hepatocerebral Form | #251880 | DGUOK | *601465 | 2p13 | Chr. 2: 74,007,461-74,039,596
[NAME], Type III | #248600 | DLD | *238331 | 7q31-q32 | Chr. 7: 107,318,822-107,348,879
Leigh Syndrome (nuclear genes) | #256000 | DLD | *238331 | 7q31-q32 | Chr. 7: 107,318,822-107,348,879
 |  | DNA2 | *601810 | 10q21.3-22.1 | Chr. 10: 69,843,827-69,901,885
3-Methylglutaconic Aciduria (MGA) Type V | #610198 | [NAME] | *608977 | 3q26.3 | Chr. 3: 182,184,200-182,190,224
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Disease | #603041 | ECGF1(TYMP) | *131222 | 22q13.32-qter | Chr. 22: 49,311,047-49,315,321
[NAME] disease 3 (STGD3) | #600110 | ELOVL4 | *605512 | 6q14 | Chr. 6: 80,681,255-80,713,941
Multiple Acyl-CoA Dehydrogenase Deficiency | #231680 | ETFA | *608053 | 15q23-q25 | Chr. 15: 74,295,646-74,390,865
Multiple Acyl-CoA Dehydrogenase Deficiency | #231680 | ETFB | *130410 | 19q13.3 | Chr. 19: 56,540,222-56,561,484
Multiple Acyl-CoA Dehydrogenase Deficiency | #231680 | ETFDH | *231675 | 4q32-qter | Chr. 4: 159,812,727-159,849,292
Ethylmalonic Encephalopathy | #602473 | ETHE1 | *608451 | 19q13.32 | Chr. 19: 48,702,712-48,723,236
Tyrosinemia, Type I |  | FAH | *276700 | 15q23-q25 | Chr. 15: 78,232,396-78,265,737
Mitochondrial Respiratory Chain [NAME] (nuclear genes) | #220110 | FASTKD2 | *612322 | 2q33.3 | Chr. 2: 207,338,577-207,365,478
Fumarase Deficiency | #606812 | FH | *136850 | 1q42.1 | Chr. 1: 239,727,526-239,749,677
Multiple Cutaneous and Uterine Leiomyomata | #150800 | FH | *136850 | 1q42.1 | Chr. 1: 239,727,526-239,749,677
Leiomyomatosis and Renal Cell Cancer | #605839 | FH | *136850 | 1q42.1 | Chr. 1: 239,727,526-239,749,677
Glycogen Storage Disease Type II (Pompe Disease) | #232300 | GAA | *606800 | 17q25.2-q25.3 | Chr. 17: 75,689,950-75,708,273
 |  | GABPA | *600609 | 21q21-q22.1 | Chr. 21: 26,028,752-26,066,642
 |  | GABPB1 | *600610 | 15q21.2 | Chr. 15: 48,356,681-48,434,687
Galactosemia | #230400 | GALT | *606999 | 9p13 | Chr. 9: 34,636,635-34,640,571
Guanidinoacetate Methyltransferase Deficiency | #612736 | GAMT | *601240 | 19p13.3 | Chr. 19: 1,348,089-1,352,552
Arginine:Glycine Amidinotransferase Deficiency | #612718 | GATM | *602360 | 15q15.3 | Chr. 15: 43,440,616-43,458,272
GCK-Related Hyperinsulinism | #602485 | GCK | *138079 | 7p15-p13 | Chr. 7: 44,150,395-44,195,563
GCK-Related Permanent Neonatal Diabetes Mellitus | #606176 | GCK | *138079 | 7p15-p13 | Chr. 7: 44,150,395-44,195,563
Maturity-Onset Diabetes of the young, Type II (MODY2) | #125851 | GCK | *138079 | 7p15-p13 | Chr. 7: 44,150,395-44,195,563
 |  | GCKR | *600842 | 2p23.3-p23.2 | Chr. 2: 27,573,210-27,600,052
GCSH-Related Glycine Encephalopathy | #605899 | GCSH | *238330 | 16q24 | Chr. 16: 79,673,430-79,687,481
GCST-Related Glycine Encephalopathy | #605899 | GCST (AMT) | *238310 | 3p21.2-p21.1 | Chr. 3: 49,429,216-49,435,016
Combined Oxidative Phosphorylation Deficiency 1 (COXPD1) | #609060 | GFM1 | *606639 | 3q25.1-q26.2 | Chr. 3: 159,845,011-159,893,055
 |  | GFM2 | *606544 | 5q13 | Chr. 5: 74,052,790-74,098,798
[NAME] | #307030 | GK | *300474 | Xp21.3-p21.2 | Chr. X: 30,581,397-30,658,645
GLDC-Related Glycine Encephalopathy | #605899 | GLDC | *238300 | 9p22 | Chr. 9: 6,522,469-6,635,692
 |  | GPD1 | *138420 | 12q12-q13 | Chr. 12: 48,784,068-48,791,358
Gylcogen Storage Disease, Type 0, muscle | #611556 | [NAME] | *138570 | 19q13.3 | Chr. 19: 54,163,195-54,188,361
Glycogen Storage Disease, Type 0, liver | #240600 | GYS2 | *138571 | 12p12.2 | Chr. 12: 21,580,390-21,649,048
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency  (LCHAD) | #609016 | HADHA | *600890 | 2p23 | Chr. 2: 26,267,009-26,321,098
Mitochondrial Trifunctional Protein (MTP) Deficiency | #609015 | HADHA | *600890 | 2p23 | Chr. 2: 26,267,009-26,321,098
Mitochondrial Trifunctional Protein (MTP) Deficiency | #609015 | HADHB | *143450 | 2p23 | Chr. 2: 26,321,120-26,366,836
Holocarboxylase Synthetase Deficiency | #253270 | HLCS | *609018 | 21q22.1 | Chr. 21: 37,045,066-37,284,373
JAG1-Related Alagille Syndrome | #118450 | JAG1 | *601920 | 20p12 | Chr. 20: 10,566,334-10,602,636
Leigh Syndrome, French-Canadian Type (LSFC) | #220111 | LRPPRC | *607544 | 2p21-p16 | Chr. 2: 43,968,391-44,076,648
3-Methylcrotonyl CoA Carboxylase 1 Deficiency (MCCA) | #210200 | MCCC1 | *609010 | 3q25-q27 | Chr. 3: 184,215,702-184,300,059
3-Methylcrotonyl CoA Carboxylase 2 Deficiency (MCCB) | #210210 | MCCC2 | *609014 | 5q12-q13 | Chr. 5: 70,918,910-70,988,981
MECP2-Rett Syndrome | #312750 | MECP2 | *300005 | Xq28 | Chr. X: 152,940,218-153,016,406
MECP2 Mutations - Neonatal Severe Encephalopathy | #300673 | MECP2 | *300005 | Xq28 | Chr. X: 152,940,218-153,016,406
MECP2 Duplication Syndrome | #300260 | MECP2 | *300005 | Xq28 | Chr. X: 152,940,218-153,016,406
MMAA-Related Methylmalonic Acidemia, cb1A Type | #251100 | MMAA | *607481 | 4q31.1-q31.2 | Chr. 4: 146,759,990-146,799,293
MMAB-Related Methylmalonic Acidemia, cb1B Type | #251110 | MMAB | *607568 | 12q24 | Chr. 12: 108,475,908-108,495,741
Methylmalonic Aciduria and [NAME], cblC Type | #277400 | MMACHC | *609831 | 1p34.1 | Chr. 1: 45,738,312-45,749,326
Methylmalonic Aciduria and Homocystinuria, cblD Type | #277410 | MMADHC (C2ORF25) | *611935 | 2q23.2 | Chr. 2: 150,134,399-150,152,486
Mitochondrial  DNA Depletion Syndrome, Hepatocerebral Form | #251880 | MPV17 | *137960 | [NAME] | Chr. 2: 27,385,866-27,399,473
 |  | MRP63 | *611997 | 13q12.11 | Chr. 13: 20,648,372-20,651,203
 |  | MRPL16 | *611829 | 11q12-q13.1 | Chr. 11: 59,330,190-59,334,921
 |  | MRPL33 | *610059 | 2p22 | Chr. 2: 27,848,088-27,856,112
 |  | MRPS12 | *603021 | 19q13.1 | Chr. 19: 44,113,188-44,115,497
Combined Oxidative Phosphorylation Deficiency 2 (COXPD2) | #610498 | MRPS16 | *609204 | 10q22.1 | Chr. 10: 74,678,609-74,682,457
Combined Oxidative Phosphorylation Deficiency 5 (COXPD5) | #611719 | MRPS22 | *605810 | 3q23 | Chr. 3: 140,545,551-140,558,575
Methylcobalamin Deficiency, cblG Type | #250940 | MTR | *156570 | 1q43 | Chr. 1: 235,025,341-235,130,585
Homocystinuria-megaloblastic anemia, cblE Type | #236270 | MTRR | *602568 | 5p15.3-p15.2 | Chr. 5: 7,922,217-7,954,233
MUT-Related Methylmalonic Acidemia (MMA) | #251000 | MUT | *609058 | 6p21 | Chr. 6: 49,506,958-49,538,990
N-Acetylglutamate Synthase Deficiency | #237310 | [NAME] | *608300 | 17q21.31 | Chr. 17: 39,437,558-39,441,959
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFA1 | *300078 | Xq24 | Chr. X: 118,889,762-118,894,624
Leigh Syndrome (nuclear genes) | #256000 | NDUFA2 | *602137 | 5q31.2 | Chr. 5: 140,005,143-140,007,424
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFA2 | *602137 | 5q31.2 | Chr. 5: 140,005,143-140,007,424
 |  | NDUFA8 | *603359 | 9q33.2-q34.11 | Chr. 9: 123,946,161-123,961,919
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFA12L | *609653 | 5q12.1 | Chr. 5: 60,276,791-60,484,609
Hurthle cell carcinoma of the thyroid | #607464 | NDUFA13 | *609435 | 19p13.2-p13.1 | Chr. 19: 19,487,799-19,500,007
 |  | NDUFAF1 | *606934 | 15q13.3 | Chr. 15: 39,466,845-39,481,934
 |  | NDUFB6 | *603322 | 9p13.2 | Chr. 9: 32,543,523-32,563,182
Leigh Syndrome (nuclear genes) | #256000 | NDUFS1 | *157655 | 2q33-q34 | Chr. 2: 206,696,080-206,732,432
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFS1 | *157655 | 2q33-q34 | Chr. 2: 206,696,080-206,732,432
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFS2 | *602985 | 1q23 | Chr. 1: 159,435,729-159,450,806
Leigh Syndrome (nuclear genes) | #256000 | NDUFS3 | *603846 | 11p11.11 | Chr. 11: 47,557,208-47,562,689
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFS3 | *603846 | 11p11.11 | Chr. 11: 47,557,208-47,562,689
Leigh Syndrome (nuclear genes) | #256000 | NDUFS4 | *602694 | 5q11.1 | Chr. 5: 52,892,242-53,014,922
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFS4 | *602694 | 5q11.1 | Chr. 5: 52,892,242-53,014,922
 |  | NDUFS5 | *603847 | 1p34.2-p33 | Chr. 1: 39,264,593-39,272,873
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFS6 | *603848 | 5pter-p15.33 | Chr. 5: 1,854,509-1,869,161
Leigh Syndrome (nuclear genes) | #256000 | NDUFS7 | *601825 | 19p13 | Chr. 19: 1,334,906-1,346,583
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFS7 | *601825 | 19p13 | Chr. 19: 1,334,906-1,346,583
Leigh Syndrome (nuclear genes) | #256000 | NDUFS8 | *602141 | 11q13 | Chr. 11: 67,554,670-67,560,686
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFS8 | *602141 | 11q13 | Chr. 11: 67,554,670-67,560,686
Leigh Syndrome (nuclear genes) | #256000 | NDUFV1 | *161015 | 11q13 | Chr. 11: 67,130,983-67,136,581
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFV1 | *161015 | 11q13 | Chr. 11: 67,130,983-67,136,581
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFV2 | *600532 | 18p11.31-p11.2 | Chr. 18: 9,092,725-9,124,336
Maturity-Onset Diabetes of the Young Type VI (MODY6) | #606394 | [NAME] | *601724 | 2q32 | Chr. 2: 182,249,440-182,253,626
Alagille Syndrome 2 ([NAME]) | #610205 | NOTCH2 | *600275 | 1p13-p11 | Chr. 1: 120,255,701-120,413,799
 |  | NRF1 | *600879 | 7q32 | Chr. 7: 129,038,791-129,184,156
 |  | NT5C | *191720 | 17q23-q25 | Chr. 17: 70,637,919-70,639,472
 |  | NT5M | *605292 | 17p11.2 | Chr. 17: 17,147,374-17,191,702
[NAME] Deficiency |  | OAT | *258870 | 10q26 | Chr. 10: 126,075,862-126,097,450
Oculocutaneous Albinism Type IA, Tyrosinase Negative | #203100 | OCA1A (TYR) | *606933 | 11q14-q21 | Chr. 11: 88,550,688-88,668,574
[NAME], Type 1 (OPA1) | #165500 | OPA1 | *605290 | 3q28-q29 | Chr. 3: 194,793,806-194,898,009
3-Methylglutaconic Aciduria Type III | #258501 | [NAME] | *606580 | 19q13.2-q13.3 | Chr. 19: 50,722,867-50,779,962
Ornithine Transcarbamylase Deficiency | #311250 | OTC | *300461 | [NAME] | Chr. X: 38,096,680-38,165,650
[NAME] Deficiency | #261600 | PAH | *612349 | 12q24.1 | Chr. 12: 101,756,234-101,835,511
Pyruvate Carboxylase Deficiency | #266150 | PC | *608786 | 11q13.4-q13.5 | Chr. 11: 66,372,573-66,482,423
[NAME], [NAME] | #606054 | PCCA | *232000 | 13q32 | Chr. 13: 99,539,338-99,980,687
[NAME], Beta Subunit | #606054 | PCCB | *232050 | 3q21-q22 | Chr. 3: 137,451,857-137,531,701
Pyruvate Dehydrogenase E1-Alpha Deficiency | #312170 | PDHA1 | *300502 | [NAME] | Chr. X: 19,271,997-19,287,886
Leigh Syndrome, X-Linked | #308930 | PDHA1 | *300502 | [NAME] | Chr. X: 19,271,997-19,287,886
Pyruvate Dehydrogenase E1-Beta Deficiency |  | PDHB | *179060 | 3p13-q23 | Chr. 3: 58,388,398-58,394,594
Pyruvate Degydrogenase E3-Binding Protien Deficiency | #245349 | PDHX | *608769 | 11p13 | Chr. 11: 34,894,695-34,974,092
Coenzyme Q10 Deficiency | #607426 | PDSS1 | *607429 | 10p12.1 | Chr. 10: 27,026,601-27,075,730
Coenzyme Q10 Deficiency | #607426 | PDSS2 | *610564 | 6q21 | Chr. 6: 107,580,456-107,887,448
Progressive External Opthalmoplegia with mtDNA Deletions, Autosomal Dominant 3 | #609286 | PEO1 (C10ORF2) | *606075 | 10q24 | Chr.10: 102,737,302-102,744,148
[NAME], Dysarthria, and Ophthalmoparesis; SANDO | #607459 | PEO1 (C10ORF2) | *606075 | 10q24 | Chr.10: 102,737,302-102,744,148
Mitochondrial  DNA Depletion Syndrome, Hepatocerebral Form | #251880 | PEO1 (C10ORF2) | *606075 | 10q24 | Chr.10: 102,737,302-102,744,148
 |  | PGC | *169740 | 6p21.3-p21.1 | Chr. 6: 41,812,428-41,823,099
 |  | PMPCB | *603131 | 7q22-q31.1 | Chr. 7: 102,725,109-102,742,368
Progressive External Opthalmoplegia with mtDNA Deletions, Autosomal Dominant 1 (adPEO) | #157640 | POLG | *174763 | 15q25 | Chr. 15: 87,660,577-87,679,030
Alpers Syndrome | #203700 | POLG | *174763 | 15q25 | Chr. 15: 87,660,577-87,679,030
[NAME], Dysarthria, and Ophthalmoparesis; SANDO | #607459 | POLG | *174763 | 15q25 | Chr. 15: 87,660,577-87,679,030
Progressive External Opthalmoplegia with mtDNA Deletions, Autosomal Dominant 4 ([NAME]) | #610131 | POLG2 | *604983 | 17q23-q24 | Chr. 17: 59,904,366-59,923,631
Familial Partial Lipodystrophy, Type 3  (FPLD3) | #604367 | PPARG | *601487 | 3p25 | Chr. 3: 12,304,349-12,450,855
Mitochondrial Myopathy and [NAME] (MLASA) | #600462 | PUS1 | *608109 | 12q24.33 | Chr. 12: 130,979,742-130,994,355
Glycogen Storage Disease Type V; McArdle Disease | #232600 | PYGM | *608455 | 11q13 | Chr. 11: 64,270,606-64,284,763
Pontocerebellar [NAME] Type 6 | #611523 | RARS2 | *611524 | 6q16.1 | Chr. 6: 88,280,824-88,356,424
Mitochondrial DNA Depletion, Encephalomyopathic Form with Renal Tubulopathy | #612075 | RRM2B | *604712 | 8q23.1 | Chr. 8: 103,285,908-103,320,522
Mitochondrial Complex IV Deficiency | #220110 | SCO1 | *603644 | 17p13-p12 | Chr. 17: 10,524,380-10,541,570
Mitochondrial Complex IV Deficiency | #220110 | SCO2 | *604272 | 22q13 | Chr. 22: 49,308,865-49,310,900
Fatal Infantile Cardioencephalomyopathy | #604377 | SCO2 | *604272 | 22q13 | Chr. 22: 49,308,865-49,310,900
Leigh Syndrome (nuclear genes) | #256000 | SDHA | *600857 | 5p15 | Chr. 5: 271,439-309,794
Mitochondrial Respiratory Chain Complex II Deficiency | #252011 | SDHA | *600857 | 5p15 | Chr. 5: 271,439-309,794
SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome | #115310 | SDHB | *185470 | 1p36.1-p35 | Chr. 1: 17,217,817-17,253,252
SDHB-Related Cowden-like Syndrome | #612359 | SDHB | *185470 | 1p36.1-p35 | Chr. 1: 17,217,817-17,253,252
Mitochondrial Respiratory Chain Complex II Deficiency | #252011 | SDHB | *185470 | 1p36.1-p35 | Chr. 1: 17,217,817-17,253,252
SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome | #605373 | SDHC | *602413 | 1q21 | Chr. 1: 159,550,790-159,601,154
Mitochondrial Respiratory Chain Complex II Deficiency | #252011 | SDHC | *602413 | 1q21 | Chr. 1: 159,550,790-159,601,154
SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome | #168000 | SDHD | *602690 | 11q23 | Chr. 11: 111,462,832-111,471,727
SDHD-Related Cowden-like Syndrome | #612359 | SDHD | *602690 | 11q23 | Chr. 11: 111,462,832-111,471,727
Mitochondrial Respiratory Chain Complex II Deficiency | #252011 | SDHD | *602690 | 11q23 | Chr. 11: 111,462,832-111,471,727
[NAME], Systemic | #212140 | SLC22A5 (OCTN2) | *603377 | 5q31.1 | Chr 5: 131,733,343-131,759,204
[NAME] Citrullinemia Deficiency, Type 2 | #603471 | SLC25A13 | *603859 | 7q21.3 | Chr. 7: 95,587,469-95,789,341
Neonatal Onset Citrullinemia Deficiency, Type 2 | #605814 | SLC25A13 | *603859 | 7q21.3 | Chr. 7: 95,587,469-95,789,341
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome | #238970 | SLC25A15 (HHH) | *603861 | 13q14 | Chr. 13: 40,261,597-40,282,246
[NAME] | #607196 | SLC25A19 (DNC) | *606521 | 17q25.3 | Chr. 17: 70,780,669-70,797,109
Carnitine-Acylcarnitine Translocase Deficiency |  | SLC25A20 (CACT) | *212138 | 3p21.31 | Chr. 3: 48,869,370-48,911,333
Mitochondrial Phosphate Carrier Deficiency | #610773 | SLC25A3 (PHC) | *600370 | 12q23 | Chr. 12: 97,511,534-97,519,906
Progressive External Ophthalmoplegia with mtDNA Deletions, Autosomal Dominant 2 (ad-PEO2) | #609283 | SLC25A4  ([NAME]) | *103220 | 4q35 | Chr. 4: 186,301,392-186,305,418
Pendred Syndrome/DFNB4 | #274600 | SLC26A4 | *605646 | 7q31 | Chr. 7: 107,088,316-107,145,490
Enlarged Vestivular Aqueduct Syndrome | #600791 | SLC26A4 | *605646 | 7q31 | Chr. 7: 107,088,316-107,145,490
X-Linked Creatine Transporter Deficiency | #300352 | SLC6A8 (CRTR) | *300036 | Xq28 | Chr. X: 152,606,586-152,615,234
 |  | SOD2 | *147460 | 6q25.3 | Chr. 6: 160,020,141-160,034,343
Leber Congenital Amaurosis 3 | #604232 | SPATA7 | 609868 | 14q31.3 | Chr. 14: 87,921,796-87,974,519
[NAME] Recessive form of Retinitis Pigmentosa | #268000 | SPATA7 | 609868 | 14q31.3 | Chr. 14: 87,921,796-87,974,519
Spastic Paraplegia 7 | #607259 | SPG7 | *602783 | 16q24.3 | Chr. 16: 88,102,306-88,151,674
 |  | SSBP1 | *600439 | 7q34 | Chr. 7: 141,084,645-141,096,726
Mitochondrial DNA Depletion Syndrome, Myopathic Form, with Methylmalonic Aciduria | #612073 | SUCLA2 | *603921 | 13q12.2-q13 | Chr. 13: 47,414,793-47,473,463
Fatal Infantile Lactic Acidosis | #245400 | SUCLG1 | *611224 | 2p11.2 | Chr. 2: 84,504,165-84,540,097
 |  | SUCLG2 | *603922 | 3p14.1 | Chr. 3: 67,507,835-67,787,728
Leigh Syndrome (nuclear genes) | #256000 | SURF1 | *185620 | 9q34 | Chr. 9: 135,208,487-135,213,182
Mitochondrial Complex IV Deficiency | #220110 | SURF1 | *185620 | 9q34 | Chr. 9: 135,208,487-135,213,182
3-Methylglutaconic Aciduria type II, Barth Syndrome | #302060 | TAZ | *300394 | Xq28 | Chr. X: 153,293,071-153,303,259
Endocardial Fibroelastosis | #305300 | TAZ | *300394 | Xq28 | Chr. X: 153,293,071-153,303,259
Familial Isolated Noncompaction of Left Ventricular Myocardium | #300183 | TAZ | *300394 | Xq28 | Chr. X: 153,293,071-153,303,259
TAZ-Related Dilated Cardiomyopathy | #300069 | TAZ | *300394 | Xq28 | Chr. X: 153,293,071-153,303,259
Maturity-Onset Diabetes of the Young Type III ([NAME]) | #600496 | TCF1 (HNF1A) | *142410 | 12q24.2 | Chr. 12: 119,900,932-119,924,695
Maturity-Onset Diabetes of the Young Type V (MODY5) | #137920 | TCF2 (HNF1B) | *189907 | 17q12 | Chr. 17: 33,120,548-33,179,209
Mitochondrial Transcription Factor A |  | TFAM | *600438 | 10q21 | Chr. 10: 59,815,182-59,825,903
Mitochondrial Transcription Factor B1 |  | TFB1M | *607033 | 6 | Chr. 6: 155,620,488-155,677,311
Mitochondrial Transcription FactorCP2-like 1 |  | TFCP2L1 | *609785 | 2q14 | Chr. 2: 121,695,003-121,759,248
 |  | TIMM13 (TIM13) | *607383 | 19p13.3 | Chr. 19: 2,376,630-2,378,875
Deafness-Dystonia-Optic Neuropathy ([NAME]) Syndrome | #304700 | TIMM8A | *300356 | Xq22 | Chr. X: 100,487,308-100,490,365
Mitochondrial DNA Depletion Syndrome, Myopathic Form | #609560 | TK2 | *188250 | 16q22 | Chr. 16: 65,100,853-65,141,816
 |  | TOMM20 | *601848 | 1q42.3 | Chr. 1: 233,339,283-233,358,754
 |  | TOMM22 | *607046 | 22q12-q13 | Chr. 22: 37,407,900-37,410,709
 |  | TOMM70A | *606081 | 3 | Chr. 3: 101,564,999-101,602,915
Combined Oxidative Phosphorylation Deficiency-3 (COXPD3) | #610505 | TSFM | *604723 | 12q13-q14 | Chr. 12: 56,462,826-56,476,784
Combined Oxidative Phosphorylation Deficiency-4 (COXPD4) | #610678 | TUFM | *602389 | 16p11.2 | Chr. 16: 28,761,615-28,765,144
Angelman Syndrome | #105830 | UBE3A | *601623 | 15q11-q13 | Chr. 15: 23,133,489-23,235,221
Mitochondrial Respiratory Chain [NAME] | #124000 | UQCRQ | *612080 | 5q31.1 | Chr. 5: 132,230,218-132,232,435
VDAC Deficiency, Anion Channel 1 |  | VDAC1 | *604492 | 5q31 | Chr. 5: 133,335,542-133,368,432
VDAC Deficiency, Anion Channel 2 |  | VDAC2 | *193245 | 10q22 | Chr. 10: 76,640,569-76,661,208
VDAC Deficiency, Anion Channel 3 |  | VDAC3 | *610029 | 8p11.2 | Chr. 8: 42,368,547-42,382,568
Myopathy with Exercise Intolerance, Swedish type | #255125 | ISCU | *611911 | 12q24.1 | Chr. 12: 107,480,529-107,487,272
 |  | NDUFA7 | *602139 | 19p13.2 | Chr. 19: 8,282,234-8,292,280
 |  | NFE2L2 ([NAME]) | *600492 | 2q31 | Chr. 2: 177,803,759-177,837,550
Alpha-ketoglutarate Dehydrogenase Deficiency | #203740 | OGDH | *613022 | 7p14-p13 | Chr. 7: 44,612,696-44,715,193
Glycogen Storage Disease Type I |  | G6PC (GSD1a) | 232200 | 17q21 | Chr. 17: 38,306,341-38,318,912
Paget Disease of Bone | #602080 | SQSTM1 | *601530 | 5q35 | Chr. 5: 179,180,503-179,197,681
Osteolysis, Familial Expansile | #174810 | TNFRSF11A | *603499 | 18q22.1 | Chr. 18: 58,143,528-58,204,482
Paget Disease of Bone | #602080 | TNFRSF11A | *603499 | 18q22.1 | Chr. 18: 58,143,528-58,204,482
Osteopetrosis, Autosomal Recessive 7 | #612301 | TNFRSF11A | *603499 | 18q22.1 | Chr. 18: 58,143,528-58,204,482
Paget Disease, Juvenile | #239000 | TNFRSF11B | *602643 | 8q24 | Chr. 8: 120,004,978-120,033,564
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia | #167320 | VCP | *601023 | 9p13-p12 | Chr. 9: 35,046,904-35,062,598
Leigh Syndrome (nuclear genes) | #256000 | CCDC44 (TACO1) | *612958 | 17q22-q24.2 | Chr. 17: 59,031,973-59,039,456
Encephalocardiomyopathy, Neonatal, Mitochondrial, due to ATP Synthasedeficiency | #604273 | TMEM70 | *612418 | 8q21.11 | Chr. 8: 75,050,984-75,057,565
Coenzyme Q10 Deficiency | #607426 | COQ9 | *612837 | 16q13 | Chr. 16: 56,038,903-56,052,679
 |  | [NAME] | *603835 | 2q37.3 | Chr. 2: 240,548,831-240,613,471
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFA11 | *612638 | 19p13.3 | Chr. 19: 5,845,686-5,855,025
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) | #252010 | NDUFAF2 (NDUFA12L) | *609653 | 5q12.1 | Chr. 12: 93,889,240-93,921,642
 |  | NDUFA3 | *603832 | 19q13.424 | Chr. 19: 59,297,975-59,302,078
 |  | NDUFA4 | *603833 | 7p21.3 | Chr. 7: 10,939,609-10,946,305
 |  | NDUFA4L2 |  | 12q13.3 | Chr. 12: 55,914,961-55,920,794
 |  | NDUFA5 | *601677 | 7q32 | Chr. 7: 122,968,319-122,985,194
 |  | NDUFA6 | *602138 | 22q13.1 | Chr. 22: 40,811,477-40,816,834
 |  | NDUFA9 | *603834 | 12p | Chr. 12: 4,628,544-4,666,658
 |  | NDUFB1 | *603837 | 14q32.12 | Chr. 14: 91,652,223-91,657,906
 |  | [NAME] | *603843 | 16p13.3 | Chr. 16: 1,949,520-1,951,977
 |  | NDUFB11 | *300403 | Xp11.3 | Chr. X: 46,886,563-46,889,381
 |  | NDUFB2 | *603838 | 7q34 | Chr. 7: 140,042,979-140,052,911
 |  | NDUFB3 | *603839 | 2q31.3 | Chr. 2: 201,644,759-201,658,716
 |  | NDUFB5 | *603841 | 3q26.33 | Chr. 3: 180,805,269-180,824,981
 |  | NDUFB7 | *603842 | 19p13.12-p13.11 | Chr. 19: 14,537,892-14,543,886
 |  | NDUFB8 | *602140 | 10q23.2-q23.33 | Chr. 10: 102,273,487-102,279,626
 |  | NDUFB9 | *601445 | 8q13.3 | Chr. 8: 125,620,524-125,631,407
 |  | NDUFC1 | *603844 | 4q28.2-q31.1 | Chr. 4: 140,430,542-140,436,440
 |  | NDUFC2 | *603845 | 11q14.1 | Chr. 11: 77,457,051-77,468,579
 |  | NDUFV3 | *602184 | 21q22.3 | Chr. 21: 43,186,447-43,202,841
 |  | COX18 | *610428 | 4q13.3 | Chr. 4: 74,139,280-74,154,336
 |  | COX19 | *610429 | 7p22.3 | Chr. 7: 971,012-981,761
 |  | COX4I1 | *123864 | 16q22-qter | Chr. 16: 84,390,697-84,398,109
 |  | COX5A | *603773 | 15q25 | Chr. 15: 72,999,672-73,017,438
 |  | COX7C | *603774 | 5q14 | Chr. 5: 85,949,540-85,952,337
 |  | COX8A (COX8) | *123870 | 11q13 | Chr. 11: 63,498,655-63,500,590
 |  | COX8C |  | 14q32.12 | Chr. 14: 92,883,290-92,884,453
 |  | OXA1L | *601066 | 14q11.2 | Chr. 14: 22,305,571-22,310,832
 |  | PET112L | *603645 | 4q27-q28 | Chr. 4: 152,811,462-152,901,609
 |  | AARS2 | *612035 | 6p21.1 | Chr. 6: 44,374,441-44,389,041
 |  | CARS2 | *612800 | 13q34 | Chr. 13: 110,091,760-110,156,464
 |  | EARS2 | *612799 | 16p13.1-p11.2 | Chr. 16: 23,440,836-23,476,197
 |  | HARS2 | *600783 | 5q31.3 | Chr. 5: 140,051,202-140,059,073
 |  | IARS2 | *612801 | 1q41 | Chr. 1: 218,334,067-218,388,003
 |  | KARS | *601421 | 16q22.2-q22.3 | Chr. 16: 74,219,131-74,239,078
 |  | LARS2 | *604544 | 3p21.3 | Chr. 3: 45,405,072-45,565,332
 |  | MARS2 | *609728 | 2q33.1 | Chr. 2: 198,278,332-198,281,358
 |  | NARS2 | *612803 | 11q14.1 | Chr. 11: 77,824,895-77,963,474
 |  | PARS2 | *612036 | 1p32.2 | Chr. 1: 54,995,161-55,002,775
 |  | SARS2 | *612804 | 19q13.2 | Chr. 19: 44,097,751-44,113,376
 |  | TARS2 | *612805 | 1q21.2 | Chr. 1: 148,726,517-148,746,369
 |  | VARS2 | *612802 | 6p21.3 | Chr. 6: 30,989,961-31,002,212
 |  | WARS2 | *604733 | 1p13.3-p13.1 | Chr. 1: 119,375,362-119,484,818
 |  | YARS2 | *610957 | 12p11.21 | Chr. 12: 32,790,746-32,800,141
 |  | C14orf156 | *610211 | 14q24.3 | Chr. 14: 77,244,188-77,253,690
 |  | C18orf22 |  | 18q23 | Chr. 18: 75,895,346-75,907,373
 |  | MTIF2 | *603766 | 2p16-p14 | Chr. 2: 55,317,262-55,349,888
 |  | MTIF3 |  | 13q12.2 | Chr. 13: 26,907,785-26,922,325
 |  | C12orf65 |  | 12q24.31 | Chr. 12: 122,283,416-122,308,459
Sulfite oxidase Deficiency | #272300 | SUOX | *606887 | 12 | Chr. 12: 54,677,310-54,685,572
Charcot-Marie-Tooth disease, type 2A2; CMT2A2 | #609260 | MFN2 | *608507 | 1p36.2 | Chr. 1: 11,962,956-11,996,152
Hereditary Motorand Sensory Neuropathy Type VI | #601152 | MFN2 | *608507 | 1p36.2 | Chr. 1: 11,962,956-11,996,152
 |  | SLC25A28 (MRS4) | *609767 | 10q24 | Chr. 10: 101,360,272-101,370,158
 |  | MRRF | *604602 | 9q32-q34.1 | Chr. 9: 124,066,756-124,125,564
 |  | MTERFD3 |  | 12q23.3 | Chr. 12: 105,895,199-105,905,059
 |  | MTRF1 | *604601 | 13q14.1-q14.3 | Chr. 13: 40,688,516-40,735,713
 |  | MTRF1L |  | 6q25.2 | Chr. 6: 153,351,363-153,365,553
 |  | MRPL1 | *611821 | 4q21.1 | Chr. 4: 79,003,016-79,092,961
 |  | MRPL2 | *611822 | 6p21.3 | Chr. 6: 43,129,745-43,135,220
 |  | MRPL3 | *607118 | 3q22.1 | Chr. 3: 132,663,736-132,704,519
 |  | MRPL4 | *611823 | 19p13.2 | Chr. 19: 10,223,640-10,231,719
 |  | MRPL9 | *611824 | 1q21 | Chr. 1: 149,998,749-150,002,664
 |  | MRPL10 | *611825 | 17q21.3 | Chr. 17: 43,255,638-43,263,902
 |  | MRPL11 | *611826 | 11q13.3 | Chr. 11: 65,959,882-65,962,880
 |  | MRPL12 | *602375 | 17q25-qter | Chr. 17: 77,280,812-77,284,951
 |  | MRPL13 | *610200 | 8q24.1 | Chr. 8: 121,477,264-121,526,828
 |  | MRPL14 | *611827 | 6p21.3 | Chr. 6: 44,189,353-44,203,169
 |  | MRPL15 | *611828 | 8q11.2-q13 | Chr. 8: 55,210,334-55,223,009
 |  | MRPL17 | *611830 | 11p15.5-p15.4 | Chr. 11: 6,659,456-6,661,150
 |  | MRPL18 | *611831 | 6q25.3 | Chr. 6: 160,131,488-160,139,450
 |  | MRPL19 | *611832 | 2p11.2-q11.2 | Chr. 2: 75,727,417-75,742,842
 |  | MRPL21 | *611834 | 11q13.2 | Chr. 11: 68,415,323-68,427,879
 |  | MRPL22 | *611835 | 5q33 | Chr. 5: 154,300,856-154,326,721
 |  | MRPL23 | *600789 | 11p15.5 | Chr. 11: 1,925,163-1,934,401
 |  | MRPL24 | *611836 | 1q21-q22 | Chr. 1: 154,973,718-154,977,547
 |  | MRPL27 | *611837 | 17q21.3-q22 | Chr. 17: 45,800,230-45,805,561
 |  | MRPL28 | *604853 | 16p13.3 | Chr. 16: 357,397-360,541
 |  | MRPL30 | *611838 | 2q11.2 | Chr. 2: 99,164,010-99,180,521
 |  | MRPL32 | *611839 | 7p14 | Chr. 7: 42,938,464-42,943,976
 |  | MRPL34 | *611840 | 19p13.1 | Chr. 19: 17,277,477-17,278,652
 |  | MRPL35 | *611841 | 2p11.2 | Chr. 2: 86,280,091-86,293,480
 |  | MRPL36 | *611842 | 5p15.3 | Chr. 5: 1,851,499-1,852,946
 |  | MRPL37 | *611843 | 1p32.1 | Chr. 1: 54,438,428-54,456,638
 |  | MRPL38 | *611844 | 17q23-q25 | Chr. 17: 71,406,319-71,413,069
 |  | MRPL39 | *611845 | 21q11.2-q21 | Chr. 21: 25,879,839-25,901,672
 |  | MRPL40 (NLVCF) | *605089 | 22q11 | Chr. 22: 17,800,036-17,803,594
 |  | MRPL41 | *611846 | 9q34.3 | Chr. 9: 139,566,165-139,566,827
 |  | MRPL42 | *611847 | 12q22 | Chr. 12: 92,385,401-92,420,562
 |  | MRPL43 | *611848 | 10q24 | Chr. 10: 102,727,569-102,737,262
 |  | [NAME] | *611849 | 2q36 | Chr. 2: 224,530,378-224,540,668
 |  | MRPL45 | *611850 | 17q21.31 | Chr. 17: 33,706,517-33,732,627
 |  | MRPL46 | *611851 | 15q24-q25 | Chr. 15: 86,803,713-86,811,623
 |  | MRPL47 | *611852 | 3q26.3 | Chr. 3: 180,788,951-180,805,128
 |  | MRPL48 | *611853 | 11q13.2 | Chr. 11: 73,176,572-73,253,297
 |  | MRPL49 | *606866 | 11q13 | Chr. 11: 64,646,304-64,651,417
 |  | MRPL50 | *611854 | 9q31.1 | Chr. 9: 103,192,070-103,200,717
 |  | MRPL51 | *611855 | 12p13.3-p13.1 | Chr. 12: 6,471,579-6,472,718
 |  | MRPL52 | *611856 | 14q11.2 | Chr. 14: 22,368,936-22,374,079
 |  | MRPL53 | *611857 | 2p12 | Chr. 2: 74,552,621-74,553,435
 |  | MRPL54 | *611858 | 19p13.3 | Chr. 19: 3,713,665-3,718,562
 |  | MRPL55 | *611859 | 1q42.13 | Chr. 1: 226,361,004-226,363,627
 |  | [NAME] | *611971 | 9q34 | Chr. 9: 137,532,375-137,536,340
 |  | MRPS5 | *611972 | 2p11.2-q11.2 | Chr. 2: 95,116,680-95,151,481
 |  | [NAME] | *611973 | 21q21.3-q22.1 | Chr. 21: 34,367,687-34,437,198
 |  | MRPS7 | *611974 | 17q23-q25 | Chr. 17: 70,769,385-70,774,049
 |  | [NAME] | *611975 | 2q12.1 | Chr. 2: 105,020,938-105,082,849
 |  | MRPS10 | *611976 | 6p21.1-p12.1 | Chr. 6: 42,282,517-42,293,581
 |  | MRPS11 | *611977 | 15q25 | Chr. 15: 86,811,688-86,822,499
 |  | MRPS14 | *611978 | 1q23-q25 | Chr. 1: 173,249,751-173,259,184
 |  | MRPS15 | *611979 | 1p35-p34.1 | Chr. 1: 36,693,960-36,702,556
 |  | MRPS17 | *611980 | 7p11-q11.21 | Chr. 7: 55,987,105-55,990,523
 |  | MRPS18A | *611981 | 6p21.3 | Chr. 6: 43,747,020-43,763,506
 |  | MRPS18C | *611983 | 4q21.23 | Chr. 4: 84,596,196-84,601,900
 |  | MRPS21 | *611984 | 1q21 | Chr. 1: 148,532,893-148,547,405
 |  | MRPS23 | *611985 | 17q22-q23 | Chr. 17: 53,271,847-53,282,407
 |  | MRPS24 | *611986 | 7p14 | Chr. 7: 43,872,682-43,875,670
 |  | MRPS25 | *611987 | 3p25 | Chr. 3: 15,065,024-15,081,820
 |  | MRPS26 | *611988 | 20p13 | Chr. 20: 2,974,675-2,976,893
 |  | MRPS27 | *611989 | 5q13.2 | Chr. 5: 71,551,112-71,651,811
 |  | MRPS28 | *611990 | 8q21.1-q21.3 | Chr. 8: 80,993,653-81,105,061
 |  | MRPS30 | *611991 | 5p12-q11 | Chr. 5: 44,844,784-44,851,371
 |  | MRPS31 | *611992 | 13q13.3 | Chr. 13: 40,201,440-40,243,309
 |  | MRPS33 | *611993 | 7q32-q34 | Chr. 7: 140,348,665-140,361,218
 |  | MRPS34 | *611994 | 16q13-q21 | Chr. 16: 1,761,898-1,763,141
 |  | MRPS35 | *611995 | 12q21.1-q21.3 | Chr. 12: 27,754,996-27,800,494
 |  | MRPS36 | *611996 | 5q12.1 | Chr. 5: 68,549,329-68,561,741
 |  | TOMM5 (C9orf105) |  | 9p13.2 | Chr. 9: 37,578,417-37,582,594
 |  | TOMM6 (C6orf49 or OBTP) | *611389 | 6p21.31 | Chr. 6: 41,863,378-41,865,614
 |  | TOMM7 | *607980 | 7p15.3 | Chr. 7: 22,819,118-22,828,989
 |  | TOMM40 | *608061 | 19q13.2 | Chr. 19: 50,086,334-50,098,775
Gaucher Disease Type 1 | #230800 | MTX1 | *600605 | 1q21 | Chr. 1: 153,445,114-153,450,238
 |  | TIMM10 | *602251 | 11q12.1-q12.3 | Chr. 11: 57,052,514-57,054,808
 |  | TIMM17A | *605057 | 1q32 | Chr. 1: 200,191,271-200,206,410
 |  | TIMM17B | *300249 | Xp11.2 | Chr. X: 48,635,676-48,640,370
 |  | TIMM23 | *605034 | 10q11.21-q11.23 | Chr. 10: 51,262,096-51,293,344
 |  | TIMM44 | *605058 | 19p13.3-p13.2 | Chr. 19: 7,897,604-7,914,538
 |  | TFB2M | *607055 | 1q44 | Chr. 1: 244,770,495-244,796,186
Atypical MycobacterialInfection, Familial Disseminated | #209950 | STAT1 | 600555 | 2q32.2-q32.3 | Chr. 2: 191,542,121-191,587,181
Hyper-IgE Recurrent Infection Syndrome | #147060 | STAT3 | *102582 | 17q21 | Chr. 17: 37,718,869-37,794,039
Hereditary Paragangliomas 2 | #601650 | C11orf79 (SDH5) | *613019 | 11q13.1 | Chr. 11: 60,954,173-60,970,801
 |  | MFN1 | *608506 | 3q26.32 | Chr. 3: 180,548,174-180,593,700
 |  | SIRT3 | *604481 | 11p15.5 | Chr. 11: 205,031-226,362
Multiple Endocrine Neoplasia Type I | #131100 | MEN1 | 131100 | 11q13 | Chr. 11: 64,327,572-64,335,342
Hyperparathyroidism 1 | #145000 | MEN1 | 131100 | 11q13 | Chr. 11: 64,327,572-64,335,342
Multiple Endocrine Neoplasia Type IIA | #171400 | RET | 164761 | 10q11.2 | Chr. 10: 42,892,523-42,945,799
Multiple Endocrine Neoplasia Type IIB | #162300 | RET | 164761 | 10q11.2 | Chr. 10: 42,892,523-42,945,799
Hirschsprung Disease | #142623 | RET | 164761 | 10q11.2 | Chr. 10: 42,892,523-42,945,799
Familial Medullary Thyroid Carcinoma | #155240 | RET | 164761 | 10q11.2 | Chr. 10: 42,892,523-42,945,799