Transgenomic NuclearMitome Test Panel 
1. AARS2 Portal LSDB OMIM N
alanyl-tRNA synthetase 2, mitochondrial
Variants: 3(3) LSDB, HGMD: 14, ClinVar: 56
Disease: COXPD8
2. AASS Portal LSDB OMIM N
aminoadipate-semialdehyde synthase
Variants: 0(0) LSDB, HGMD: 10, ClinVar: 8
Disease:
3. ABAT Portal LSDB OMIM N
4-aminobutyrate aminotransferase
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 12
Disease:
4. ABCB7 Portal LSDB OMIM N
ATP-binding cassette, sub-family B (MDR/TAP), member 7
Variants: 0(0) LSDB, HGMD: 4, ClinVar: 26
Disease:
5. ABCD1 Portal LSDB OMIM N
ATP-binding cassette, sub-family D (ALD), member 1
Variants: 0(0) LSDB, HGMD: 586, ClinVar: 77
Disease:
6. ABHD5 Portal LSDB OMIM N
abhydrolase domain containing 5
Variants: 0(0) LSDB, HGMD: 25, ClinVar: 6
Disease:
7. ACAD8 Portal LSDB OMIM N
acyl-CoA dehydrogenase family, member 8
Variants: 0(0) LSDB, HGMD: 20, ClinVar: 16
Disease:
8. ACAD9 Portal LSDB OMIM N
acyl-CoA dehydrogenase family, member 9
Variants: 8(8) LSDB, HGMD: 12, ClinVar: 51
Disease: 611126
9. ACADL Portal LSDB OMIM N
acyl-CoA dehydrogenase, long chain
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 1
Disease:
10. ACADM Portal LSDB OMIM N
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
Variants: 13(12) LSDB, HGMD: 145, ClinVar: 120
Disease: ACADMD
11. ACADSB Portal LSDB OMIM N
acyl-CoA dehydrogenase, short/branched chain
Variants: 0(0) LSDB, HGMD: 14, ClinVar: 6
Disease:
12. ACADVL Portal LSDB OMIM N
acyl-CoA dehydrogenase, very long chain
Variants: 50(39) LSDB, HGMD: 160, ClinVar: 103
Disease: 201460, ACADVLD
13. ACAT1 Portal LSDB OMIM N
acetyl-CoA acetyltransferase 1
Variants: 13(13) LSDB, HGMD: 61, ClinVar: 39
Disease: 203750
14. ACSF3 Portal LSDB OMIM N
acyl-CoA synthetase family member 3
Variants: 0(0) LSDB, HGMD: 10, ClinVar: 33
Disease:
15. ACSL4 Portal LSDB OMIM N
acyl-CoA synthetase long-chain family member 4
Variants: 0(0) LSDB, HGMD: 4, ClinVar: 12
Disease:
16. ADCK3 Portal LSDB OMIM N
aarF domain containing kinase 3
Variants: 12(12) LSDB, HGMD: 25, ClinVar: 59
Disease: COQ10D4
17. AFG3L2 Portal LSDB OMIM N
AFG3-like AAA ATPase 2
Variants: 0(0) LSDB, HGMD: 16, ClinVar: 32
Disease: SCA28
18. AGXT Portal LSDB OMIM N
alanine-glyoxylate aminotransferase
Variants: 0(0) LSDB, HGMD: 151, ClinVar: 238
Disease:
19. AIFM1 Portal LSDB OMIM N
apoptosis-inducing factor, mitochondrion-associated, 1
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 33
Disease: COXPD6
20. AIFM2 Portal LSDB OMIM N
apoptosis-inducing factor, mitochondrion-associated, 2
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
21. AK2 Portal LSDB OMIM N
adenylate kinase 2
Variants: 10(10) LSDB, HGMD: 13, ClinVar: 17
Disease: 267500
22. AKR1D1 Portal LSDB OMIM N
aldo-keto reductase family 1, member D1
Variants: 0(0) LSDB, HGMD: 11, ClinVar: 6
Disease:
23. ALAS2 Portal LSDB OMIM N
aminolevulinate, delta-, synthase 2
Variants: 0(0) LSDB, HGMD: 86, ClinVar: 47
Disease:
24. ALDH18A1 Portal LSDB OMIM N
aldehyde dehydrogenase 18 family, member A1
Variants: 0(0) LSDB, HGMD: 10, ClinVar: 18
Disease:
25. ALDH4A1 Portal LSDB OMIM N
aldehyde dehydrogenase 4 family, member A1
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 3
Disease:
26. ALDH5A1 Portal LSDB OMIM N
aldehyde dehydrogenase 5 family, member A1
Variants: 0(0) LSDB, HGMD: 47, ClinVar: 11
Disease:
27. ALDH6A1 Portal LSDB OMIM N
aldehyde dehydrogenase 6 family, member A1
Variants: 0(0) LSDB, HGMD: 5, ClinVar: 1
Disease:
28. ALG1 Portal LSDB OMIM N
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
Variants: 0(0) LSDB, HGMD: 19, ClinVar: 25
Disease:
29. ALG12 Portal LSDB OMIM N
ALG12, alpha-1,6-mannosyltransferase
Variants: 0(0) LSDB, HGMD: 13, ClinVar: 17
Disease:
30. ALG2 Portal LSDB OMIM N
ALG2, alpha-1,3/1,6-mannosyltransferase
Variants: 0(0) LSDB, HGMD: 4, ClinVar: 10
Disease:
31. ALG3 Portal LSDB OMIM N
ALG3, alpha-1,3- mannosyltransferase
Variants: 0(0) LSDB, HGMD: 11, ClinVar: 6
Disease:
32. ALG6 Portal LSDB OMIM N
ALG6, alpha-1,3-glucosyltransferase
Variants: 0(0) LSDB, HGMD: 19, ClinVar: 20
Disease:
33. ALG8 Portal LSDB OMIM N
ALG8, alpha-1,3-glucosyltransferase
Variants: 0(0) LSDB, HGMD: 14, ClinVar: 15
Disease:
34. ALG9 Portal LSDB OMIM N
ALG9, alpha-1,2-mannosyltransferase
Variants: 0(0) LSDB, HGMD: , ClinVar: 9
Disease:
35. AMACR Portal LSDB OMIM N
alpha-methylacyl-CoA racemase
Variants: 0(0) LSDB, HGMD: 12, ClinVar: 0
Disease:
36. AMT Portal LSDB OMIM N
aminomethyltransferase
Variants: 0(0) LSDB, HGMD: 30, ClinVar: 22
Disease:
37. APEX2 Portal LSDB OMIM N
APEX nuclease (apurinic/apyrimidinic endonuclease) 2
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
38. APTX Portal LSDB OMIM N
aprataxin
Variants: 0(0) LSDB, HGMD: 27, ClinVar: 28
Disease:
39. ARG1 Portal LSDB OMIM N
arginase 1
Variants: 0(0) LSDB, HGMD: 40, ClinVar: 6
Disease:
40. ARMS2 Portal LSDB OMIM N
age-related maculopathy susceptibility 2
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 3
Disease:
41. ASL Portal LSDB OMIM N
argininosuccinate lyase
Variants: 0(0) LSDB, HGMD: 133, ClinVar: 55
Disease:
42. ASS1 Portal LSDB OMIM N
argininosuccinate synthase 1
Variants: 15(15) LSDB, HGMD: 98, ClinVar: 50
Disease:
43. ATL1 Portal LSDB OMIM N
atlastin GTPase 1
Variants: 0(0) LSDB, HGMD: 55, ClinVar: 32
Disease:
44. ATM Portal LSDB OMIM N
ataxia telangiectasia mutated
Variants: 0(0) LSDB, HGMD: 673, ClinVar: 1572
Disease:
45. ATP5A1 Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 3
Disease: 615228
46. ATP5B Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
47. ATP5C1 Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
48. ATP5D Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
49. ATP5E Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 0
Disease: 614053
50. ATP5F1 Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
51. ATP5G1 Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
52. ATP5G2 Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
53. ATP5G3 Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
54. ATP5H Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
55. ATP5I Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
56. ATP5J Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
57. ATP5J2 Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
58. ATP5L Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
59. ATP5O Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
60. ATP5S Portal LSDB OMIM N
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
61. ATP7B Portal LSDB OMIM N
ATPase, Cu++ transporting, beta polypeptide
Variants: 0(0) LSDB, HGMD: 761, ClinVar: 162
Disease:
62. ATPAF1 Portal LSDB OMIM N
ATP synthase mitochondrial F1 complex assembly factor 1
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
63. ATPAF2 Portal LSDB OMIM N
ATP synthase mitochondrial F1 complex assembly factor 2
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 14
Disease: 604273
64. ATPIF1 Portal LSDB OMIM N
ATPase inhibitory factor 1
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
65. ATXN10 Portal LSDB OMIM N
ataxin 10
Variants: 0(0) LSDB, HGMD: , ClinVar: 7
Disease:
66. ATXN7 Portal LSDB OMIM N
ataxin 7
Variants: 0(0) LSDB, HGMD: , ClinVar: 7
Disease:
67. AUH Portal LSDB OMIM N
AU RNA binding protein/enoyl-CoA hydratase
Variants: 4(4) LSDB, HGMD: 10, ClinVar: 28
Disease: MGCA1
68. B4GALT1 Portal LSDB OMIM N
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 3
Disease:
69. BCKDHA Portal LSDB OMIM N
branched chain keto acid dehydrogenase E1, alpha polypeptide
Variants: 0(0) LSDB, HGMD: 67, ClinVar: 79
Disease:
70. BCKDHB Portal LSDB OMIM N
branched chain keto acid dehydrogenase E1, beta polypeptide
Variants: 0(0) LSDB, HGMD: 69, ClinVar: 85
Disease:
71. BCS1L Portal LSDB OMIM N
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Variants: 17(17) LSDB, HGMD: 28, ClinVar: 36
Disease: 603358, BJS, LS, MC3DN1
72. BRAF Portal LSDB OMIM N
v-raf murine sarcoma viral oncogene homolog B
Variants: 0(0) LSDB, HGMD: 53, ClinVar: 183
Disease:
73. BTD Portal LSDB OMIM N
biotinidase
Variants: 0(0) LSDB, HGMD: 156, ClinVar: 178
Disease:
74. C10orf2 Portal LSDB OMIM N
chromosome 10 open reading frame 2
Variants: 24(24) LSDB, HGMD: 54, ClinVar: 51
Disease: MTDPS3, MTDPS7, PEOA3, SANDO
75. C12orf65 Portal LSDB OMIM N
chromosome 12 open reading frame 65
Variants: 2(2) LSDB, HGMD: 8, ClinVar: 14
Disease: COXPD7
76. C14orf2 Portal LSDB OMIM N
chromosome 14 open reading frame 2
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
77. CAPN3 Portal LSDB OMIM N
calpain 3, (p94)
Variants: 0(0) LSDB, HGMD: 349, ClinVar: 90
Disease:
78. CARS2 Portal LSDB OMIM N
cysteinyl-tRNA synthetase 2, mitochondrial (putative)
Variants: 0(0) LSDB, HGMD: , ClinVar: 3
Disease:
79. CAV3 Portal LSDB OMIM N
caveolin 3
Variants: 0(0) LSDB, HGMD: 40, ClinVar: 70
Disease:
80. CDKL5 Portal LSDB OMIM N
cyclin-dependent kinase-like 5
Variants: 10(10) LSDB, HGMD: 161, ClinVar: 279
Disease:
81. CHKB Portal LSDB OMIM N
choline kinase beta
Variants: 2(2) LSDB, HGMD: 14, ClinVar: 0
Disease: MDCMC
82. CISD2 Portal LSDB OMIM N
CDGSH iron sulfur domain 2
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease: WFS2
83. CLN3 Portal LSDB OMIM N
ceroid-lipofuscinosis, neuronal 3
Variants: 0(0) LSDB, HGMD: 55, ClinVar: 124
Disease:
84. CLN5 Portal LSDB OMIM N
ceroid-lipofuscinosis, neuronal 5
Variants: 0(0) LSDB, HGMD: 39, ClinVar: 87
Disease:
85. CLN6 Portal LSDB OMIM N
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
Variants: 0(0) LSDB, HGMD: 62, ClinVar: 71
Disease:
86. CLN8 Portal LSDB OMIM N
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Variants: 0(0) LSDB, HGMD: 28, ClinVar: 70
Disease:
87. CMC1 Portal LSDB OMIM N
C-x(9)-C motif containing 1
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
88. COG1 Portal LSDB OMIM N
component of oligomeric golgi complex 1
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 20
Disease:
89. COG7 Portal LSDB OMIM N
component of oligomeric golgi complex 7
Variants: 0(0) LSDB, HGMD: 4, ClinVar: 7
Disease:
90. COG8 Portal LSDB OMIM N
component of oligomeric golgi complex 8
Variants: 0(0) LSDB, HGMD: 5, ClinVar: 6
Disease:
91. COQ10A Portal LSDB OMIM N
coenzyme Q10 homolog A (S. cerevisiae)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
92. COQ10B Portal LSDB OMIM N
coenzyme Q10 homolog B (S. cerevisiae)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
93. COQ2 Portal LSDB OMIM N
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Variants: 4(4) LSDB, HGMD: 19, ClinVar: 37
Disease: COQ10D1
94. COQ3 Portal LSDB OMIM N
coenzyme Q3 methyltransferase
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
95. COQ4 Portal LSDB OMIM N
coenzyme Q4
Variants: 0(0) LSDB, HGMD: , ClinVar: 7
Disease:
96. COQ5 Portal LSDB OMIM N
coenzyme Q5 homolog, methyltransferase (S. cerevisiae)
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
97. COQ6 Portal LSDB OMIM N
coenzyme Q6 monooxygenase
Variants: 4(4) LSDB, HGMD: 7, ClinVar: 13
Disease: COQ10D6
98. COQ7 Portal LSDB OMIM N
coenzyme Q7 homolog, ubiquinone (yeast)
Variants: 0(0) LSDB, HGMD: , ClinVar: 1
Disease:
99. COQ9 Portal LSDB OMIM N
coenzyme Q9
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 19
Disease: COQ10D5
100. COX10 Portal LSDB OMIM N
cytochrome c oxidase assembly homolog 10 (yeast)
Variants: 5(5) LSDB, HGMD: 7, ClinVar: 22
Disease: 220110, LS
101. COX11 Portal LSDB OMIM N
cytochrome c oxidase assembly homolog 11 (yeast)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
102. COX15 Portal LSDB OMIM N
cytochrome c oxidase assembly homolog 15 (yeast)
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 27
Disease: LS
103. COX17 Portal LSDB OMIM N
COX17 cytochrome c oxidase copper chaperone
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
104. COX18 Portal LSDB OMIM N
COX18 cytochrome C oxidase assembly factor
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
105. COX19 Portal LSDB OMIM N
cytochrome c oxidase assembly homolog 19 (S. cerevisiae)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
106. COX4I1 Portal LSDB OMIM N
cytochrome c oxidase subunit IV isoform 1
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 0
Disease:
107. COX4I2 Portal LSDB OMIM N
cytochrome c oxidase subunit IV isoform 2 (lung)
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 2
Disease:
108. COX5A Portal LSDB OMIM N
cytochrome c oxidase subunit Va
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
109. COX5B Portal LSDB OMIM N
cytochrome c oxidase subunit Vb
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
110. COX6A1 Portal LSDB OMIM N
cytochrome c oxidase subunit VIa polypeptide 1
Variants: 0(0) LSDB, HGMD: , ClinVar: 1
Disease:
111. COX6A2 Portal LSDB OMIM N
cytochrome c oxidase subunit VIa polypeptide 2
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
112. COX6B1 Portal LSDB OMIM N
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
Variants: 3(2) LSDB, HGMD: 2, ClinVar: 6
Disease: 220110
113. COX6B2 Portal LSDB OMIM N
cytochrome c oxidase subunit VIb polypeptide 2 (testis)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
114. COX6C Portal LSDB OMIM N
cytochrome c oxidase subunit VIc
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
115. COX7A1 Portal LSDB OMIM N
cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
116. COX7A2 Portal LSDB OMIM N
cytochrome c oxidase subunit VIIa polypeptide 2 (liver)
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
117. COX7A2L Portal LSDB OMIM N
cytochrome c oxidase subunit VIIa polypeptide 2 like
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
118. COX7B Portal LSDB OMIM N
cytochrome c oxidase subunit VIIb
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 3
Disease:
119. COX7B2 Portal LSDB OMIM N
cytochrome c oxidase subunit VIIb2
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
120. COX7C Portal LSDB OMIM N
cytochrome c oxidase subunit VIIc
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
121. COX8A Portal LSDB OMIM N
cytochrome c oxidase subunit VIIIA (ubiquitous)
Variants: 0(0) LSDB, HGMD: , ClinVar: 1
Disease:
122. COX8C Portal LSDB OMIM N
cytochrome c oxidase subunit VIIIC
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
123. CPOX Portal LSDB OMIM N
coproporphyrinogen oxidase
Variants: 0(0) LSDB, HGMD: 62, ClinVar: 15
Disease:
124. CPS1 Portal LSDB OMIM N
carbamoyl-phosphate synthase 1, mitochondrial
Variants: 12(11) LSDB, HGMD: 234, ClinVar: 32
Disease: 237300, PHN
125. CPT1A Portal LSDB OMIM N
carnitine palmitoyltransferase 1A (liver)
Variants: 34(33) LSDB, HGMD: 39, ClinVar: 52
Disease: 255120
126. CPT2 Portal LSDB OMIM N
carnitine palmitoyltransferase 2
Variants: 14(14) LSDB, HGMD: 97, ClinVar: 55
Disease: 255110, 608836, CPT II
127. CRLS1 Portal LSDB OMIM N
cardiolipin synthase 1
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
128. CRYAB Portal LSDB OMIM N
crystallin, alpha B
Variants: 0(0) LSDB, HGMD: 20, ClinVar: 30
Disease:
129. CTNS Portal LSDB OMIM N
cystinosin, lysosomal cystine transporter
Variants: 0(0) LSDB, HGMD: 104, ClinVar: 37
Disease:
130. CTSD Portal LSDB OMIM N
cathepsin D
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 76
Disease:
131. CYB5A Portal LSDB OMIM N
cytochrome b5 type A (microsomal)
Variants: 0(0) LSDB, HGMD: 6, ClinVar: 1
Disease:
132. CYB5R3 Portal LSDB OMIM N
cytochrome b5 reductase 3
Variants: 0(0) LSDB, HGMD: 59, ClinVar: 19
Disease:
133. CYBA Portal LSDB OMIM N
cytochrome b-245, alpha polypeptide
Variants: 0(0) LSDB, HGMD: 54, ClinVar: 19
Disease:
134. CYBB Portal LSDB OMIM N
cytochrome b-245, beta polypeptide
Variants: 0(0) LSDB, HGMD: 569, ClinVar: 83
Disease:
135. CYC1 Portal LSDB OMIM N
cytochrome c-1
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 2
Disease: MC3DN6
136. CYCS Portal LSDB OMIM N
cytochrome c, somatic
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 2
Disease:
137. CYP11A1 Portal LSDB OMIM N
cytochrome P450, family 11, subfamily A, polypeptide 1
Variants: 0(0) LSDB, HGMD: 16, ClinVar: 9
Disease:
138. CYP11B1 Portal LSDB OMIM N
cytochrome P450, family 11, subfamily B, polypeptide 1
Variants: 0(0) LSDB, HGMD: 99, ClinVar: 6
Disease:
139. CYP11B2 Portal LSDB OMIM N
cytochrome P450, family 11, subfamily B, polypeptide 2
Variants: 0(0) LSDB, HGMD: 42, ClinVar: 4
Disease:
140. CYP27A1 Portal LSDB OMIM N
cytochrome P450, family 27, subfamily A, polypeptide 1
Variants: 0(0) LSDB, HGMD: 84, ClinVar: 66
Disease:
141. CYP27B1 Portal LSDB OMIM N
cytochrome P450, family 27, subfamily B, polypeptide 1
Variants: 0(0) LSDB, HGMD: 63, ClinVar: 17
Disease:
142. CYP7B1 Portal LSDB OMIM N
cytochrome P450, family 7, subfamily B, polypeptide 1
Variants: 0(0) LSDB, HGMD: 34, ClinVar: 19
Disease:
143. D2HGDH Portal LSDB OMIM N
D-2-hydroxyglutarate dehydrogenase
Variants: 4(4) LSDB, HGMD: 30, ClinVar: 42
Disease:
144. DARS2 Portal LSDB OMIM N
aspartyl-tRNA synthetase 2, mitochondrial
Variants: 19(19) LSDB, HGMD: 50, ClinVar: 24
Disease: 611105
145. DBT Portal LSDB OMIM N
dihydrolipoamide branched chain transacylase E2
Variants: 0(0) LSDB, HGMD: 54, ClinVar: 65
Disease:
146. DCX Portal LSDB OMIM N
doublecortin
Variants: 0(0) LSDB, HGMD: 119, ClinVar: 122
Disease:
147. DECR1 Portal LSDB OMIM N
2,4-dienoyl CoA reductase 1, mitochondrial
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
148. DGUOK Portal LSDB OMIM N
deoxyguanosine kinase
Variants: 5(5) LSDB, HGMD: 54, ClinVar: 24
Disease: MTDPS3
149. DLAT Portal LSDB OMIM N
dihydrolipoamide S-acetyltransferase
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 20
Disease: PDHDD
150. DLD Portal LSDB OMIM N
dihydrolipoamide dehydrogenase
Variants: 0(0) LSDB, HGMD: 19, ClinVar: 40
Disease:
151. DLST Portal LSDB OMIM N
dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
152. DMGDH Portal LSDB OMIM N
dimethylglycine dehydrogenase
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 1
Disease:
153. DMPK Portal LSDB OMIM N
dystrophia myotonica-protein kinase
Variants: 0(0) LSDB, HGMD: , ClinVar: 148
Disease:
154. DNAJC19 Portal LSDB OMIM N
DnaJ (Hsp40) homolog, subfamily C, member 19
Variants: 4(2) LSDB, HGMD: 2, ClinVar: 9
Disease: MGCA5
155. DNM1L Portal LSDB OMIM N
dynamin 1-like
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 7
Disease: 614388
156. DNM2 Portal LSDB OMIM N
dynamin 2
Variants: 0(0) LSDB, HGMD: 36, ClinVar: 49
Disease:
157. DOLK Portal LSDB OMIM N
dolichol kinase
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 23
Disease:
158. DPAGT1 Portal LSDB OMIM N
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
Variants: 0(0) LSDB, HGMD: 24, ClinVar: 16
Disease:
159. DPM1 Portal LSDB OMIM N
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
Variants: 0(0) LSDB, HGMD: 8, ClinVar: 4
Disease:
160. DPM3 Portal LSDB OMIM N
dolichyl-phosphate mannosyltransferase polypeptide 3
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 3
Disease:
161. EARS2 Portal LSDB OMIM N
glutamyl-tRNA synthetase 2, mitochondrial
Variants: 7(7) LSDB, HGMD: 17, ClinVar: 16
Disease:
162. ECSIT Portal LSDB OMIM N
ECSIT signalling integrator
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
163. EIF2AK3 Portal LSDB OMIM N
eukaryotic translation initiation factor 2-alpha kinase 3
Variants: 0(0) LSDB, HGMD: 61, ClinVar: 14
Disease:
164. ELOVL4 Portal LSDB OMIM N
ELOVL fatty acid elongase 4
Variants: 0(0) LSDB, HGMD: 9, ClinVar: 10
Disease:
165. ETFA Portal LSDB OMIM N
electron-transfer-flavoprotein, alpha polypeptide
Variants: 3(3) LSDB, HGMD: 26, ClinVar: 17
Disease: MADD
166. ETFB Portal LSDB OMIM N
electron-transfer-flavoprotein, beta polypeptide
Variants: 2(2) LSDB, HGMD: 12, ClinVar: 24
Disease: MADD
167. ETFDH Portal LSDB OMIM N
electron-transferring-flavoprotein dehydrogenase
Variants: 0(0) LSDB, HGMD: 141, ClinVar: 50
Disease: MADD
168. ETHE1 Portal LSDB OMIM N
ethylmalonic encephalopathy 1
Variants: 0(0) LSDB, HGMD: 26, ClinVar: 21
Disease:
169. FA2H Portal LSDB OMIM N
fatty acid 2-hydroxylase
Variants: 0(0) LSDB, HGMD: 17, ClinVar: 21
Disease:
170. FARS2 Portal LSDB OMIM N
phenylalanyl-tRNA synthetase 2, mitochondrial
Variants: 3(3) LSDB, HGMD: 5, ClinVar: 24
Disease: COXPD14
171. FASTKD2 Portal LSDB OMIM N
FAST kinase domains 2
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 23
Disease: 220110
172. FECH Portal LSDB OMIM N
ferrochelatase
Variants: 0(0) LSDB, HGMD: 175, ClinVar: 18
Disease:
173. FGF14 Portal LSDB OMIM N
fibroblast growth factor 14
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 2
Disease:
174. FH Portal LSDB OMIM N
fumarate hydratase
Variants: 0(0) LSDB, HGMD: 138, ClinVar: 147
Disease:
175. FOXG1 Portal LSDB OMIM N
forkhead box G1
Variants: 0(0) LSDB, HGMD: 33, ClinVar: 125
Disease:
176. FOXRED1 Portal LSDB OMIM N
FAD-dependent oxidoreductase domain containing 1
Variants: 3(3) LSDB, HGMD: 6, ClinVar: 32
Disease: 252010, LS
177. FXN Portal LSDB OMIM N
frataxin
Variants: 0(0) LSDB, HGMD: 51, ClinVar: 13
Disease: FRDA;FRDA1;FA
178. GAA Portal LSDB OMIM N
glucosidase, alpha; acid
Variants: 0(0) LSDB, HGMD: 442, ClinVar: 125
Disease:
179. GAD1 Portal LSDB OMIM N
glutamate decarboxylase 1 (brain, 67kDa)
Variants: 0(0) LSDB, HGMD: 4, ClinVar: 2
Disease:
180. GAMT Portal LSDB OMIM N
guanidinoacetate N-methyltransferase
Variants: 13(9) LSDB, HGMD: 47, ClinVar: 62
Disease:
181. GARS Portal LSDB OMIM N
glycyl-tRNA synthetase
Variants: 0(0) LSDB, HGMD: 16, ClinVar: 26
Disease:
182. GATM Portal LSDB OMIM N
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
Variants: 6(5) LSDB, HGMD: 7, ClinVar: 35
Disease: CCDS3
183. GCDH Portal LSDB OMIM N
glutaryl-CoA dehydrogenase
Variants: 9(9) LSDB, HGMD: 165, ClinVar: 41
Disease:
184. GCK Portal LSDB OMIM N
glucokinase (hexokinase 4)
Variants: 0(0) LSDB, HGMD: 705, ClinVar: 146
Disease: NIDDM
185. GCSH Portal LSDB OMIM N
glycine cleavage system protein H (aminomethyl carrier)
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 2
Disease:
186. GDAP1 Portal LSDB OMIM N
ganglioside induced differentiation associated protein 1
Variants: 0(0) LSDB, HGMD: 61, ClinVar: 29
Disease:
187. GFER Portal LSDB OMIM N
growth factor, augmenter of liver regeneration
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 13
Disease: 613076
188. GFM1 Portal LSDB OMIM N
G elongation factor, mitochondrial 1
Variants: 4(4) LSDB, HGMD: 12, ClinVar: 38
Disease: COXPD1
189. GK Portal LSDB OMIM N
glycerol kinase
Variants: 0(0) LSDB, HGMD: 28, ClinVar: 10
Disease:
190. GLA Portal LSDB OMIM N
galactosidase, alpha
Variants: 0(0) LSDB, HGMD: 727, ClinVar: 21
Disease:
191. GLDC Portal LSDB OMIM N
glycine dehydrogenase (decarboxylating)
Variants: 0(0) LSDB, HGMD: 102, ClinVar: 88
Disease: 605899 GCE
192. GLRX5 Portal LSDB OMIM N
glutaredoxin 5
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 6
Disease:
193. GLUD1 Portal LSDB OMIM N
glutamate dehydrogenase 1
Variants: 0(0) LSDB, HGMD: 33, ClinVar: 16
Disease:
194. GNPAT Portal LSDB OMIM N
glyceronephosphate O-acyltransferase
Variants: 0(0) LSDB, HGMD: 13, ClinVar: 12
Disease:
195. GPD2 Portal LSDB OMIM N
glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 1
Disease: NIDDM
196. GPHN Portal LSDB OMIM N
gephyrin
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 8
Disease:
197. HADH Portal LSDB OMIM N
hydroxyacyl-CoA dehydrogenase
Variants: 2(2) LSDB, HGMD: 19, ClinVar: 14
Disease: HADH Dificiency
198. HADHA Portal LSDB OMIM N
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
Variants: 7(7) LSDB, HGMD: 61, ClinVar: 21
Disease: 609015, LCHAD
199. HADHB Portal LSDB OMIM N
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
Variants: 6(6) LSDB, HGMD: 51, ClinVar: 20
Disease: 609015
200. HARS2 Portal LSDB OMIM N
histidyl-tRNA synthetase 2, mitochondrial
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 23
Disease: PRLTS2
201. HAX1 Portal LSDB OMIM N
HCLS1 associated protein X-1
Variants: 0(0) LSDB, HGMD: 16, ClinVar: 11
Disease:
202. HCCS Portal LSDB OMIM N
holocytochrome c synthase
Variants: 0(0) LSDB, HGMD: 4, ClinVar: 10
Disease:
203. HFE Portal LSDB OMIM N
hemochromatosis
Variants: 9(9) LSDB, HGMD: 47, ClinVar: 18
Disease:
204. HK1 Portal LSDB OMIM N
hexokinase 1
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 5
Disease:
205. HLCS Portal LSDB OMIM N
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
Variants: 0(0) LSDB, HGMD: 38, ClinVar: 46
Disease:
206. HMGCL Portal LSDB OMIM N
3-hydroxymethyl-3-methylglutaryl-CoA lyase
Variants: 0(0) LSDB, HGMD: 43, ClinVar: 9
Disease:
207. HMGCS2 Portal LSDB OMIM N
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
Variants: 6(6) LSDB, HGMD: 18, ClinVar: 11
Disease: 605911
208. HSD17B10 Portal LSDB OMIM N
hydroxysteroid (17-beta) dehydrogenase 10
Variants: 0(0) LSDB, HGMD: 10, ClinVar: 10
Disease:
209. HSD3B2 Portal LSDB OMIM N
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Variants: 0(0) LSDB, HGMD: 47, ClinVar: 12
Disease:
210. HSPD1 Portal LSDB OMIM N
heat shock 60kDa protein 1 (chaperonin)
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 20
Disease: HLD4
211. IARS2 Portal LSDB OMIM N
isoleucyl-tRNA synthetase 2, mitochondrial
Variants: 0(0) LSDB, HGMD: , ClinVar: 3
Disease:
212. IDH2 Portal LSDB OMIM N
isocitrate dehydrogenase 2 (NADP+), mitochondrial
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 14
Disease: 613657
213. ISCU Portal LSDB OMIM N
iron-sulfur cluster assembly enzyme
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 10
Disease: HML
214. ITPR1 Portal LSDB OMIM N
inositol 1,4,5-trisphosphate receptor, type 1
Variants: 0(0) LSDB, HGMD: 6, ClinVar: 18
Disease:
215. IVD Portal LSDB OMIM N
isovaleryl-CoA dehydrogenase
Variants: 0(0) LSDB, HGMD: 55, ClinVar: 37
Disease:
216. KARS Portal LSDB OMIM N
lysyl-tRNA synthetase
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 22
Disease:
217. KCNC3 Portal LSDB OMIM N
potassium voltage-gated channel, Shaw-related subfamily, member 3
Variants: 0(0) LSDB, HGMD: 5, ClinVar: 6
Disease:
218. KCNJ11 Portal LSDB OMIM N
potassium inwardly-rectifying channel, subfamily J, member 11
Variants: 1(1) LSDB, HGMD: 147, ClinVar: 76
Disease: NIDDM
219. KIAA0196 Portal LSDB OMIM N
KIAA0196
Variants: 0(0) LSDB, HGMD: 9, ClinVar: 21
Disease:
220. KIAA0226 Portal LSDB OMIM N
KIAA0226
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
221. KIF1B Portal LSDB OMIM N
kinesin family member 1B
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 31
Disease:
222. KIF5A Portal LSDB OMIM N
kinesin family member 5A
Variants: 0(0) LSDB, HGMD: 23, ClinVar: 16
Disease:
223. LARS2 Portal LSDB OMIM N
leucyl-tRNA synthetase 2, mitochondrial
Variants: 4(4) LSDB, HGMD: 4, ClinVar: 27
Disease: PRLTS4
224. LETM1 Portal LSDB OMIM N
leucine zipper-EF-hand containing transmembrane protein 1
Variants: 0(0) LSDB, HGMD: , ClinVar: 2
Disease:
225. LMBRD1 Portal LSDB OMIM N
LMBR1 domain containing 1
Variants: 0(0) LSDB, HGMD: 8, ClinVar: 6
Disease:
226. LRPPRC Portal LSDB OMIM N
leucine-rich pentatricopeptide repeat containing
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 72
Disease: LSFC
227. MAOA Portal LSDB OMIM N
monoamine oxidase A
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 13
Disease:
228. MAPT Portal LSDB OMIM N
microtubule-associated protein tau
Variants: 0(0) LSDB, HGMD: 79, ClinVar: 70
Disease:
229. MARS2 Portal LSDB OMIM N
methionyl-tRNA synthetase 2, mitochondrial
Variants: 0(0) LSDB, HGMD: , ClinVar: 17
Disease:
230. MCCC1 Portal LSDB OMIM N
methylcrotonoyl-CoA carboxylase 1 (alpha)
Variants: 0(0) LSDB, HGMD: 63, ClinVar: 37
Disease:
231. MCCC2 Portal LSDB OMIM N
methylcrotonoyl-CoA carboxylase 2 (beta)
Variants: 0(0) LSDB, HGMD: 84, ClinVar: 35
Disease:
232. ME2 Portal LSDB OMIM N
malic enzyme 2, NAD(+)-dependent, mitochondrial
Variants: 0(0) LSDB, HGMD: , ClinVar: 1
Disease:
233. MECP2 Portal LSDB OMIM N
methyl CpG binding protein 2 (Rett syndrome)
Variants: 0(0) LSDB, HGMD: 391, ClinVar: 862
Disease:
234. MFN2 Portal LSDB OMIM N
mitofusin 2
Variants: 5(5) LSDB, HGMD: 144, ClinVar: 77
Disease: CMT2A2, HSMN6, MSL
235. MFSD8 Portal LSDB OMIM N
major facilitator superfamily domain containing 8
Variants: 0(0) LSDB, HGMD: 32, ClinVar: 68
Disease:
236. MGAT2 Portal LSDB OMIM N
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
Variants: 0(0) LSDB, HGMD: 5, ClinVar: 7
Disease:
237. MLYCD Portal LSDB OMIM N
malonyl-CoA decarboxylase
Variants: 0(0) LSDB, HGMD: 28, ClinVar: 18
Disease:
238. MMAA Portal LSDB OMIM N
methylmalonic aciduria (cobalamin deficiency) cblA type
Variants: 0(0) LSDB, HGMD: 43, ClinVar: 26
Disease:
239. MMAB Portal LSDB OMIM N
methylmalonic aciduria (cobalamin deficiency) cblB type
Variants: 0(0) LSDB, HGMD: 32, ClinVar: 25
Disease:
240. MMACHC Portal LSDB OMIM N
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Variants: 0(0) LSDB, HGMD: 72, ClinVar: 34
Disease:
241. MMADHC Portal LSDB OMIM N
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Variants: 0(0) LSDB, HGMD: 13, ClinVar: 18
Disease:
242. MOCS1 Portal LSDB OMIM N
molybdenum cofactor synthesis 1
Variants: 0(0) LSDB, HGMD: 31, ClinVar: 7
Disease:
243. MOCS2 Portal LSDB OMIM N
molybdenum cofactor synthesis 2
Variants: 0(0) LSDB, HGMD: 11, ClinVar: 10
Disease:
244. MOGS Portal LSDB OMIM N
mannosyl-oligosaccharide glucosidase
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 14
Disease:
245. MPDU1 Portal LSDB OMIM N
mannose-P-dolichol utilization defect 1
Variants: 0(0) LSDB, HGMD: 5, ClinVar: 6
Disease:
246. MPI Portal LSDB OMIM N
mannose phosphate isomerase
Variants: 0(0) LSDB, HGMD: 18, ClinVar: 20
Disease:
247. MPV17 Portal LSDB OMIM N
MpV17 mitochondrial inner membrane protein
Variants: 19(19) LSDB, HGMD: 32, ClinVar: 29
Disease: MTDPS6
248. MRPS16 Portal LSDB OMIM N
mitochondrial ribosomal protein S16
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 0
Disease: COXPD2
249. MRPS22 Portal LSDB OMIM N
mitochondrial ribosomal protein S22
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 15
Disease: COXPD5
250. MTFMT Portal LSDB OMIM N
mitochondrial methionyl-tRNA formyltransferase
Variants: 8(8) LSDB, HGMD: 13, ClinVar: 17
Disease: COXPD15
251. MTHFD1 Portal LSDB OMIM N
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Variants: 0(0) LSDB, HGMD: 6, ClinVar: 4
Disease:
252. MTO1 Portal LSDB OMIM N
mitochondrial tRNA translation optimization 1
Variants: 7(7) LSDB, HGMD: 5, ClinVar: 10
Disease: COXPD10
253. MTPAP Portal LSDB OMIM N
mitochondrial poly(A) polymerase
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 5
Disease: SPAX4
254. MTRR Portal LSDB OMIM N
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Variants: 0(0) LSDB, HGMD: 24, ClinVar: 27
Disease:
255. MUT Portal LSDB OMIM N
methylmalonyl CoA mutase
Variants: 0(0) LSDB, HGMD: 245, ClinVar: 97
Disease:
256. MUTYH Portal LSDB OMIM N
mutY homolog
Variants: 0(0) LSDB, HGMD: 107, ClinVar: 386
Disease:
257. MYH7 Portal LSDB OMIM N
myosin, heavy chain 7, cardiac muscle, beta
Variants: 36(36) LSDB, HGMD: 513, ClinVar: 896
Disease:
258. NAGS Portal LSDB OMIM N
N-acetylglutamate synthase
Variants: 0(0) LSDB, HGMD: 23, ClinVar: 0
Disease:
259. NARS2 Portal LSDB OMIM N
asparaginyl-tRNA synthetase 2, mitochondrial (putative)
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 2
Disease:
260. NDUFA1 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
Variants: 3(3) LSDB, HGMD: 3, ClinVar: 6
Disease: 252010
261. NDUFA10 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
Variants: 2(2) LSDB, HGMD: 3, ClinVar: 21
Disease: LS
262. NDUFA11 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 10
Disease: 252010
263. NDUFA12 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 3
Disease: LS
264. NDUFA13 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 1
Disease:
265. NDUFA2 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 5
Disease: LS
266. NDUFA3 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
267. NDUFA4 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 1
Disease:
268. NDUFA4L2 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
269. NDUFA5 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
270. NDUFA6 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 1
Disease:
271. NDUFA7 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
272. NDUFA8 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 0
Disease:
273. NDUFA9 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
Variants: 2(2) LSDB, HGMD: 1, ClinVar: 19
Disease: LS
274. NDUFAB1 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
275. NDUFAF1 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
Variants: 3(3) LSDB, HGMD: 7, ClinVar: 24
Disease: 252010
276. NDUFAF2 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
Variants: 1(1) LSDB, HGMD: 6, ClinVar: 13
Disease: 252010, LS
277. NDUFAF3 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
Variants: 4(4) LSDB, HGMD: 4, ClinVar: 10
Disease: 252010
278. NDUFAF4 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 9
Disease: 252010
279. NDUFB1 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
280. NDUFB10 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
281. NDUFB11 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 2
Disease:
282. NDUFB2 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
283. NDUFB3 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 3
Disease: 252010
284. NDUFB4 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
285. NDUFB5 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
286. NDUFB6 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
287. NDUFB7 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
288. NDUFB8 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
289. NDUFB9 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 9
Disease: 252010
290. NDUFC1 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
291. NDUFC2 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
292. NDUFS1 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
Variants: 9(9) LSDB, HGMD: 18, ClinVar: 40
Disease: 252010
293. NDUFS2 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
Variants: 3(3) LSDB, HGMD: 18, ClinVar: 28
Disease: 252010
294. NDUFS3 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
Variants: 2(2) LSDB, HGMD: 3, ClinVar: 10
Disease: 252010, LS
295. NDUFS4 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
Variants: 5(4) LSDB, HGMD: 12, ClinVar: 20
Disease: 252010, LS
296. NDUFS5 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
297. NDUFS6 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 10
Disease: 252010
298. NDUFS7 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
Variants: 2(2) LSDB, HGMD: 4, ClinVar: 19
Disease: LS
299. NDUFS8 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
Variants: 7(7) LSDB, HGMD: 12, ClinVar: 15
Disease: 252010, LS
300. NDUFV1 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
Variants: 3(3) LSDB, HGMD: 26, ClinVar: 34
Disease: 252010
301. NDUFV2 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 5
Disease: 252010, 556500
302. NDUFV3 Portal LSDB OMIM N
NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa
Variants: 0(0) LSDB, HGMD: 5, ClinVar: 0
Disease:
303. NEFL Portal LSDB OMIM N
neurofilament, light polypeptide
Variants: 0(0) LSDB, HGMD: , ClinVar: 61
Disease:
304. NIPA1 Portal LSDB OMIM N
non imprinted in Prader-Willi/Angelman syndrome 1
Variants: 0(0) LSDB, HGMD: 10, ClinVar: 10
Disease:
305. NKX2-1 Portal LSDB OMIM N
NK2 homeobox 1
Variants: 0(0) LSDB, HGMD: 85, ClinVar: 12
Disease:
306. NPC1 Portal LSDB OMIM N
Niemann-Pick disease, type C1
Variants: 0(0) LSDB, HGMD: 360, ClinVar: 100
Disease:
307. NPC2 Portal LSDB OMIM N
Niemann-Pick disease, type C2
Variants: 0(0) LSDB, HGMD: 23, ClinVar: 19
Disease:
308. NUBPL Portal LSDB OMIM N
nucleotide binding protein-like
Variants: 4(4) LSDB, HGMD: 6, ClinVar: 24
Disease: 252010
309. OAT Portal LSDB OMIM N
ornithine aminotransferase
Variants: 0(0) LSDB, HGMD: 64, ClinVar: 70
Disease:
310. OGDH Portal LSDB OMIM N
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
311. OPA1 Portal LSDB OMIM N
optic atrophy 1 (autosomal dominant)
Variants: 24(20) LSDB, HGMD: 276, ClinVar: 112
Disease: OPA1
312. OPA3 Portal LSDB OMIM N
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Variants: 3(3) LSDB, HGMD: 9, ClinVar: 14
Disease: MGCA3
313. OTC Portal LSDB OMIM N
ornithine carbamoyltransferase
Variants: 0(0) LSDB, HGMD: 408, ClinVar: 340
Disease:
314. OXA1L Portal LSDB OMIM N
oxidase (cytochrome c) assembly 1-like
Variants: 0(0) LSDB, HGMD: , ClinVar: 1
Disease:
315. OXCT1 Portal LSDB OMIM N
3-oxoacid CoA transferase 1
Variants: 0(0) LSDB, HGMD: 24, ClinVar: 16
Disease:
316. PAFAH1B1 Portal LSDB OMIM N
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Variants: 0(0) LSDB, HGMD: 65, ClinVar: 119
Disease:
317. PANK2 Portal LSDB OMIM N
pantothenate kinase 2
Variants: 8(8) LSDB, HGMD: 127, ClinVar: 20
Disease:
318. PARL Portal LSDB OMIM N
presenilin associated, rhomboid-like
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 1
Disease:
319. PARS2 Portal LSDB OMIM N
prolyl-tRNA synthetase 2, mitochondrial (putative)
Variants: 0(0) LSDB, HGMD: , ClinVar: 2
Disease:
320. PC Portal LSDB OMIM N
pyruvate carboxylase
Variants: 32(19) LSDB, HGMD: 31, ClinVar: 64
Disease: 266150
321. PCCA Portal LSDB OMIM N
propionyl CoA carboxylase, alpha polypeptide
Variants: 0(0) LSDB, HGMD: 80, ClinVar: 33
Disease:
322. PCCB Portal LSDB OMIM N
propionyl CoA carboxylase, beta polypeptide
Variants: 0(0) LSDB, HGMD: 99, ClinVar: 47
Disease:
323. PCK2 Portal LSDB OMIM N
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 0
Disease: 261650
324. PDHA1 Portal LSDB OMIM N
pyruvate dehydrogenase (lipoamide) alpha 1
Variants: 14(14) LSDB, HGMD: 136, ClinVar: 55
Disease: 308930, PDHAD
325. PDHB Portal LSDB OMIM N
pyruvate dehydrogenase (lipoamide) beta
Variants: 2(2) LSDB, HGMD: 12, ClinVar: 13
Disease: PDHBD
326. PDHX Portal LSDB OMIM N
pyruvate dehydrogenase complex, component X
Variants: 3(3) LSDB, HGMD: 15, ClinVar: 40
Disease:
327. PDP1 Portal LSDB OMIM N
pyruvate dehyrogenase phosphatase catalytic subunit 1
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 6
Disease: PDHPD
328. PDSS1 Portal LSDB OMIM N
prenyl (decaprenyl) diphosphate synthase, subunit 1
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 19
Disease: COQ10D2
329. PDSS2 Portal LSDB OMIM N
prenyl (decaprenyl) diphosphate synthase, subunit 2
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 14
Disease: COQ10D3
330. PDX1 Portal LSDB OMIM N
pancreatic and duodenal homeobox 1
Variants: 0(0) LSDB, HGMD: 23, ClinVar: 14
Disease: NIDDM
331. PEX13 Portal LSDB OMIM N
peroxisomal biogenesis factor 13
Variants: 0(0) LSDB, HGMD: 9, ClinVar: 7
Disease:
332. PHB Portal LSDB OMIM N
prohibitin
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 1
Disease:
333. PHYH Portal LSDB OMIM N
phytanoyl-CoA 2-hydroxylase
Variants: 0(0) LSDB, HGMD: 30, ClinVar: 17
Disease:
334. PLP1 Portal LSDB OMIM N
proteolipid protein 1
Variants: 0(0) LSDB, HGMD: 173, ClinVar: 39
Disease:
335. PMM2 Portal LSDB OMIM N
phosphomannomutase 2
Variants: 0(0) LSDB, HGMD: 115, ClinVar: 46
Disease:
336. PNKD Portal LSDB OMIM N
paroxysmal nonkinesigenic dyskinesia
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 3
Disease:
337. PNPLA2 Portal LSDB OMIM N
patatin-like phospholipase domain containing 2
Variants: 0(0) LSDB, HGMD: 40, ClinVar: 11
Disease:
338. PNPLA3 Portal LSDB OMIM N
patatin-like phospholipase domain containing 3
Variants: 0(0) LSDB, HGMD: 4, ClinVar: 0
Disease:
339. POLG Portal LSDB OMIM N
polymerase (DNA directed), gamma
Variants: 210(209) LSDB, HGMD: 224, ClinVar: 273
Disease: 258450, MTDPS1, MTDPS4A, MTDPS4B, PEOA1, SANDO
340. POLG2 Portal LSDB OMIM N
polymerase (DNA directed), gamma 2, accessory subunit
Variants: 7(3) LSDB, HGMD: 9, ClinVar: 22
Disease: 610131
341. PPM1B Portal LSDB OMIM N
protein phosphatase, Mg2+/Mn2+ dependent, 1B
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
342. PPOX Portal LSDB OMIM N
protoporphyrinogen oxidase
Variants: 0(0) LSDB, HGMD: 170, ClinVar: 14
Disease:
343. PPT1 Portal LSDB OMIM N
palmitoyl-protein thioesterase 1
Variants: 0(0) LSDB, HGMD: 67, ClinVar: 99
Disease:
344. PREPL Portal LSDB OMIM N
prolyl endopeptidase-like
Variants: 3(3) LSDB, HGMD: 2, ClinVar: 0
Disease:
345. PRKCG Portal LSDB OMIM N
protein kinase C, gamma
Variants: 0(0) LSDB, HGMD: 32, ClinVar: 46
Disease:
346. PRODH Portal LSDB OMIM N
proline dehydrogenase (oxidase) 1
Variants: 0(0) LSDB, HGMD: 20, ClinVar: 10
Disease:
347. PUS1 Portal LSDB OMIM N
pseudouridylate synthase 1
Variants: 4(2) LSDB, HGMD: 4, ClinVar: 27
Disease: MLASA1
348. RARS2 Portal LSDB OMIM N
arginyl-tRNA synthetase 2, mitochondrial
Variants: 3(3) LSDB, HGMD: 15, ClinVar: 56
Disease: PCH6
349. REEP1 Portal LSDB OMIM N
receptor accessory protein 1
Variants: 0(0) LSDB, HGMD: 42, ClinVar: 22
Disease:
350. RFT1 Portal LSDB OMIM N
RFT1 homolog (S. cerevisiae)
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 12
Disease:
351. RMRP Portal LSDB OMIM N
RNA component of mitochondrial RNA processing endoribonuclease
Variants: 0(0) LSDB, HGMD: 64, ClinVar: 28
Disease:
352. RNASEH2A Portal LSDB OMIM N
ribonuclease H2, subunit A
Variants: 0(0) LSDB, HGMD: 17, ClinVar: 12
Disease:
353. RNASEH2B Portal LSDB OMIM N
ribonuclease H2, subunit B
Variants: 0(0) LSDB, HGMD: 33, ClinVar: 3
Disease:
354. RNASEH2C Portal LSDB OMIM N
ribonuclease H2, subunit C
Variants: 0(0) LSDB, HGMD: 11, ClinVar: 5
Disease:
355. RRM2B Portal LSDB OMIM N
ribonucleotide reductase M2 B (TP53 inducible)
Variants: 21(21) LSDB, HGMD: 39, ClinVar: 58
Disease: 612075, PEOA5
356. RYR1 Portal LSDB OMIM N
ryanodine receptor 1 (skeletal)
Variants: 0(0) LSDB, HGMD: 464, ClinVar: 635
Disease:
357. SAMHD1 Portal LSDB OMIM N
SAM domain and HD domain 1
Variants: 0(0) LSDB, HGMD: 28, ClinVar: 23
Disease:
358. SARS2 Portal LSDB OMIM N
seryl-tRNA synthetase 2, mitochondrial
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 20
Disease:
359. SCN1A Portal LSDB OMIM N
sodium channel, voltage-gated, type I, alpha subunit
Variants: 0(0) LSDB, HGMD: 1005, ClinVar: 376
Disease:
360. SCO1 Portal LSDB OMIM N
SCO1 cytochrome c oxidase assembly protein
Variants: 2(2) LSDB, HGMD: 5, ClinVar: 16
Disease: 220110
361. SCO2 Portal LSDB OMIM N
SCO2 cytochrome c oxidase assembly protein
Variants: 14(7) LSDB, HGMD: 22, ClinVar: 2
Disease: CEMCOX1
362. SDHA Portal LSDB OMIM N
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
Variants: 8(7) LSDB, HGMD: 28, ClinVar: 66
Disease: 252011, CMD1GG, LS
363. SDHAF1 Portal LSDB OMIM N
succinate dehydrogenase complex assembly factor 1
Variants: 2(2) LSDB, HGMD: 4, ClinVar: 7
Disease: 252011
364. SDHAF2 Portal LSDB OMIM N
succinate dehydrogenase complex assembly factor 2
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 11
Disease:
365. SDHB Portal LSDB OMIM N
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
Variants: 0(0) LSDB, HGMD: 185, ClinVar: 112
Disease:
366. SDHC Portal LSDB OMIM N
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
Variants: 0(0) LSDB, HGMD: 42, ClinVar: 37
Disease:
367. SDHD Portal LSDB OMIM N
succinate dehydrogenase complex, subunit D, integral membrane protein
Variants: 1(1) LSDB, HGMD: 132, ClinVar: 61
Disease:
368. SGCD Portal LSDB OMIM N
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
Variants: 1(1) LSDB, HGMD: 13, ClinVar: 65
Disease:
369. SLC12A3 Portal LSDB OMIM N
solute carrier family 12 (sodium/chloride transporter), member 3
Variants: 0(0) LSDB, HGMD: 397, ClinVar: 25
Disease:
370. SLC16A2 Portal LSDB OMIM N
solute carrier family 16, member 2 (thyroid hormone transporter)
Variants: 0(0) LSDB, HGMD: 45, ClinVar: 45
Disease:
371. SLC19A2 Portal LSDB OMIM N
solute carrier family 19 (thiamine transporter), member 2
Variants: 0(0) LSDB, HGMD: 42, ClinVar: 13
Disease:
372. SLC22A5 Portal LSDB OMIM N
solute carrier family 22 (organic cation/carnitine transporter), member 5
Variants: 127(122) LSDB, HGMD: 97, ClinVar: 135
Disease: CDSP
373. SLC25A12 Portal LSDB OMIM N
solute carrier family 25 (aspartate/glutamate carrier), member 12
Variants: 2(2) LSDB, HGMD: 3, ClinVar: 2
Disease: 612949
374. SLC25A13 Portal LSDB OMIM N
solute carrier family 25 (aspartate/glutamate carrier), member 13
Variants: 23(21) LSDB, HGMD: 79, ClinVar: 22
Disease: 605814, CTLN2
375. SLC25A15 Portal LSDB OMIM N
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
Variants: 21(20) LSDB, HGMD: 33, ClinVar: 22
Disease: 238970
376. SLC25A16 Portal LSDB OMIM N
solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16
Variants: 0(0) LSDB, HGMD: , ClinVar: 1
Disease:
377. SLC25A19 Portal LSDB OMIM N
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 14
Disease: MCPHA
378. SLC25A20 Portal LSDB OMIM N
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Variants: 8(8) LSDB, HGMD: 34, ClinVar: 12
Disease: CACTD
379. SLC25A22 Portal LSDB OMIM N
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
Variants: 3(3) LSDB, HGMD: 3, ClinVar: 71
Disease: EIEE3
380. SLC25A3 Portal LSDB OMIM N
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 11
Disease: 610773
381. SLC25A38 Portal LSDB OMIM N
solute carrier family 25, member 38
Variants: 0(0) LSDB, HGMD: 21, ClinVar: 5
Disease:
382. SLC25A4 Portal LSDB OMIM N
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
Variants: 6(6) LSDB, HGMD: 9, ClinVar: 15
Disease: 609283, MTDPS12
383. SLC29A3 Portal LSDB OMIM N
solute carrier family 29 (equilibrative nucleoside transporter), member 3
Variants: 0(0) LSDB, HGMD: 20, ClinVar: 31
Disease:
384. SLC2A1 Portal LSDB OMIM N
solute carrier family 2 (facilitated glucose transporter), member 1
Variants: 0(0) LSDB, HGMD: 174, ClinVar: 143
Disease:
385. SLC2A10 Portal LSDB OMIM N
solute carrier family 2 (facilitated glucose transporter), member 10
Variants: 0(0) LSDB, HGMD: 22, ClinVar: 82
Disease:
386. SLC33A1 Portal LSDB OMIM N
solute carrier family 33 (acetyl-CoA transporter), member 1
Variants: 0(0) LSDB, HGMD: 6, ClinVar: 6
Disease:
387. SLC35A1 Portal LSDB OMIM N
solute carrier family 35 (CMP-sialic acid transporter), member A1
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 4
Disease:
388. SLC35C1 Portal LSDB OMIM N
solute carrier family 35 (GDP-fucose transporter), member C1
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 9
Disease:
389. SLC3A1 Portal LSDB OMIM N
solute carrier family 3 (amino acid transporter heavy chain), member 1
Variants: 8(8) LSDB, HGMD: 125, ClinVar: 10
Disease:
390. SLC6A8 Portal LSDB OMIM N
solute carrier family 6 (neurotransmitter transporter), member 8
Variants: 14(13) LSDB, HGMD: 106, ClinVar: 35
Disease:
391. SLC7A13 Portal LSDB OMIM N
solute carrier family 7 (anionic amino acid transporter), member 13
Variants: 0(0) LSDB, HGMD: , ClinVar: 1
Disease:
392. SLC7A9 Portal LSDB OMIM N
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
Variants: 10(10) LSDB, HGMD: 99, ClinVar: 17
Disease:
393. SOD1 Portal LSDB OMIM N
superoxide dismutase 1, soluble
Variants: 0(0) LSDB, HGMD: 183, ClinVar: 36
Disease:
394. SPAST Portal LSDB OMIM N
spastin
Variants: 0(0) LSDB, HGMD: 411, ClinVar: 78
Disease:
395. SPG11 Portal LSDB OMIM N
spastic paraplegia 11 (autosomal recessive)
Variants: 0(0) LSDB, HGMD: 143, ClinVar: 140
Disease:
396. SPG20 Portal LSDB OMIM N
spastic paraplegia 20 (Troyer syndrome)
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 9
Disease:
397. SPG7 Portal LSDB OMIM N
spastic paraplegia 7 (pure and complicated autosomal recessive)
Variants: 0(0) LSDB, HGMD: 78, ClinVar: 86
Disease:
398. SPTBN2 Portal LSDB OMIM N
spectrin, beta, non-erythrocytic 2
Variants: 0(0) LSDB, HGMD: 6, ClinVar: 20
Disease:
399. STAR Portal LSDB OMIM N
steroidogenic acute regulatory protein
Variants: 0(0) LSDB, HGMD: 60, ClinVar: 15
Disease:
400. SUCLA2 Portal LSDB OMIM N
succinate-CoA ligase, ADP-forming, beta subunit
Variants: 4(4) LSDB, HGMD: 11, ClinVar: 36
Disease: 612073
401. SUCLG1 Portal LSDB OMIM N
succinate-CoA ligase, alpha subunit
Variants: 3(3) LSDB, HGMD: 13, ClinVar: 25
Disease: 245400
402. SUOX Portal LSDB OMIM N
sulfite oxidase
Variants: 0(0) LSDB, HGMD: 22, ClinVar: 8
Disease:
403. SURF1 Portal LSDB OMIM N
surfeit 1
Variants: 3(3) LSDB, HGMD: 92, ClinVar: 43
Disease: 220110, LS
404. TACO1 Portal LSDB OMIM N
translational activator of mitochondrially encoded cytochrome c oxidase I
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 9
Disease: 220110
405. TARS2 Portal LSDB OMIM N
threonyl-tRNA synthetase 2, mitochondrial (putative)
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 2
Disease:
406. TAT Portal LSDB OMIM N
tyrosine aminotransferase
Variants: 0(0) LSDB, HGMD: 20, ClinVar: 2
Disease:
407. TAZ Portal LSDB OMIM N
tafazzin
Variants: 345(206) LSDB, HGMD: 113, ClinVar: 56
Disease: BTHS
408. TIMM8A Portal LSDB OMIM N
translocase of inner mitochondrial membrane 8 homolog A (yeast)
Variants: 6(6) LSDB, HGMD: 13, ClinVar: 16
Disease: MTS
409. TK2 Portal LSDB OMIM N
thymidine kinase 2, mitochondrial
Variants: 40(35) LSDB, HGMD: 39, ClinVar: 50
Disease: MTDPS2
410. TMEM126A Portal LSDB OMIM N
transmembrane protein 126A
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 11
Disease:
411. TMEM126B Portal LSDB OMIM N
transmembrane protein 126B
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
412. TMEM70 Portal LSDB OMIM N
transmembrane protein 70
Variants: 3(3) LSDB, HGMD: 13, ClinVar: 23
Disease: 614052
413. TOP1MT Portal LSDB OMIM N
topoisomerase (DNA) I, mitochondrial
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 0
Disease:
414. TPM2 Portal LSDB OMIM N
tropomyosin 2 (beta)
Variants: 0(0) LSDB, HGMD: 36, ClinVar: 31
Disease:
415. TPP1 Portal LSDB OMIM N
tripeptidyl peptidase I
Variants: 0(0) LSDB, HGMD: 104, ClinVar: 115
Disease:
416. TRMU Portal LSDB OMIM N
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
Variants: 5(5) LSDB, HGMD: 15, ClinVar: 42
Disease: 580000, LFIT
417. TSFM Portal LSDB OMIM N
Ts translation elongation factor, mitochondrial
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 11
Disease: COXPD3
418. TTBK2 Portal LSDB OMIM N
tau tubulin kinase 2
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 5
Disease:
419. TUFM Portal LSDB OMIM N
Tu translation elongation factor, mitochondrial
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 15
Disease: COXPD4
420. TYMP Portal LSDB OMIM N
thymidine phosphorylase
Variants: 9(9) LSDB, HGMD: 83, ClinVar: 120
Disease: MTDPS1
421. UBE3A Portal LSDB OMIM N
ubiquitin protein ligase E3A
Variants: 0(0) LSDB, HGMD: 70, ClinVar: 211
Disease:
422. UCP1 Portal LSDB OMIM N
uncoupling protein 1 (mitochondrial, proton carrier)
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 1
Disease: 601665
423. UCP2 Portal LSDB OMIM N
uncoupling protein 2 (mitochondrial, proton carrier)
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 8
Disease:
424. UCP3 Portal LSDB OMIM N
uncoupling protein 3 (mitochondrial, proton carrier)
Variants: 0(0) LSDB, HGMD: 9, ClinVar: 4
Disease: 601665
425. UNG Portal LSDB OMIM N
uracil-DNA glycosylase
Variants: 0(0) LSDB, HGMD: 6, ClinVar: 7
Disease:
426. UQCR10 Portal LSDB OMIM N
ubiquinol-cytochrome c reductase, complex III subunit X
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
427. UQCR11 Portal LSDB OMIM N
ubiquinol-cytochrome c reductase, complex III subunit XI
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
428. UQCRB Portal LSDB OMIM N
ubiquinol-cytochrome c reductase binding protein
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 7
Disease: MC3DN1, MC3DN3
429. UQCRC1 Portal LSDB OMIM N
ubiquinol-cytochrome c reductase core protein I
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
430. UQCRC2 Portal LSDB OMIM N
ubiquinol-cytochrome c reductase core protein II
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 0
Disease: MC3DN5
431. UQCRFS1 Portal LSDB OMIM N
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
432. UQCRH Portal LSDB OMIM N
ubiquinol-cytochrome c reductase hinge protein
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
433. UQCRQ Portal LSDB OMIM N
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 7
Disease: MC3DN4
434. UROS Portal LSDB OMIM N
uroporphyrinogen III synthase
Variants: 0(0) LSDB, HGMD: 43, ClinVar: 27
Disease:
435. USMG5 Portal LSDB OMIM N
up-regulated during skeletal muscle growth 5 homolog (mouse)
Variants: 0(0) LSDB, HGMD: , ClinVar: 0
Disease:
436. VARS2 Portal LSDB OMIM N
valyl-tRNA synthetase 2, mitochondrial
Variants: 3(3) LSDB, HGMD: 3, ClinVar: 3
Disease:
437. WARS2 Portal LSDB OMIM N
tryptophanyl tRNA synthetase 2, mitochondrial
Variants: 0(0) LSDB, HGMD: , ClinVar: 2
Disease:
438. WFS1 Portal LSDB OMIM N
Wolfram syndrome 1 (wolframin)
Variants: 2(2) LSDB, HGMD: 258, ClinVar: 263
Disease: NIDDM
439. XDH Portal LSDB OMIM N
xanthine dehydrogenase
Variants: 0(0) LSDB, HGMD: 25, ClinVar: 5
Disease:
440. XPNPEP3 Portal LSDB OMIM N
X-prolyl aminopeptidase (aminopeptidase P) 3, putative
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 5
Disease:
441. YARS2 Portal LSDB OMIM N
tyrosyl-tRNA synthetase 2, mitochondrial
Variants: 6(6) LSDB, HGMD: 7, ClinVar: 23
Disease: MLASA2
442. ZFYVE26 Portal LSDB OMIM N
zinc finger, FYVE domain containing 26
Variants: 0(0) LSDB, HGMD: 28, ClinVar: 48
Disease: