1. AARS2 N alanyl-tRNA synthetase 2, mitochondrial Variants: 93(90) , HGMD: 14, ClinVar: 56 Disease: COXPD8, LKENP | 2. AASS N aminoadipate-semialdehyde synthase Variants: 0(0) , HGMD: 10, ClinVar: 8 Disease: | 3. ABAT N 4-aminobutyrate aminotransferase Variants: 0(0) , HGMD: 3, ClinVar: 12 Disease: |
4. ABCB7 N ATP-binding cassette, sub-family B (MDR/TAP), member 7 Variants: 0(0) , HGMD: 4, ClinVar: 26 Disease: | 5. ABCD1 N ATP-binding cassette, sub-family D (ALD), member 1 Variants: 0(0) , HGMD: 586, ClinVar: 77 Disease: | 6. ABHD5 N abhydrolase domain containing 5 Variants: 0(0) , HGMD: 25, ClinVar: 6 Disease: |
7. ACAD8 N acyl-CoA dehydrogenase family, member 8 Variants: 0(0) , HGMD: 20, ClinVar: 16 Disease: | 8. ACAD9 N acyl-CoA dehydrogenase family, member 9 Variants: 69(62) , HGMD: 12, ClinVar: 51 Disease: 611126 | 9. ACADL N acyl-CoA dehydrogenase, long chain Variants: 24(23) , HGMD: 2, ClinVar: 1 Disease: |
10. ACADM N acyl-CoA dehydrogenase, C-4 to C-12 straight chain Variants: 217(205) , HGMD: 145, ClinVar: 120 Disease: ACADMD | 11. ACADSB N acyl-CoA dehydrogenase, short/branched chain Variants: 0(0) , HGMD: 14, ClinVar: 6 Disease: | 12. ACADVL N acyl-CoA dehydrogenase, very long chain Variants: 366(327) , HGMD: 160, ClinVar: 103 Disease: 201460, ACADVLD |
13. ACAT1 N acetyl-CoA acetyltransferase 1 Variants: 95(85) , HGMD: 61, ClinVar: 39 Disease: 203750 | 14. ACSF3 N acyl-CoA synthetase family member 3 Variants: 0(0) , HGMD: 10, ClinVar: 33 Disease: | 15. ACSL4 N acyl-CoA synthetase long-chain family member 4 Variants: 0(0) , HGMD: 4, ClinVar: 12 Disease: |
16. ADCK3 N aarF domain containing kinase 3 Variants: 107(99) , HGMD: 25, ClinVar: 59 Disease: COQ10D4 | 17. AFG3L2 N AFG3-like AAA ATPase 2 Variants: 14(14) , HGMD: 16, ClinVar: 32 Disease: SCA28 | 18. AGXT N alanine-glyoxylate aminotransferase Variants: 0(0) , HGMD: 151, ClinVar: 238 Disease: |
19. AIFM1 N apoptosis-inducing factor, mitochondrion-associated, 1 Variants: 37(37) , HGMD: 4, ClinVar: 33 Disease: COXPD6 | 20. AIFM2 N apoptosis-inducing factor, mitochondrion-associated, 2 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 21. AK2 N adenylate kinase 2 Variants: 34(27) , HGMD: 13, ClinVar: 17 Disease: 267500 |
22. AKR1D1 N aldo-keto reductase family 1, member D1 Variants: 0(0) , HGMD: 11, ClinVar: 6 Disease: | 23. ALAS2 N aminolevulinate, delta-, synthase 2 Variants: 0(0) , HGMD: 86, ClinVar: 47 Disease: | 24. ALDH18A1 N aldehyde dehydrogenase 18 family, member A1 Variants: 0(0) , HGMD: 10, ClinVar: 18 Disease: |
25. ALDH4A1 N aldehyde dehydrogenase 4 family, member A1 Variants: 0(0) , HGMD: 3, ClinVar: 3 Disease: | 26. ALDH5A1 N aldehyde dehydrogenase 5 family, member A1 Variants: 0(0) , HGMD: 47, ClinVar: 11 Disease: | 27. ALDH6A1 N aldehyde dehydrogenase 6 family, member A1 Variants: 0(0) , HGMD: 5, ClinVar: 1 Disease: |
28. ALG1 N ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase Variants: 0(0) , HGMD: 19, ClinVar: 25 Disease: | 29. ALG12 N ALG12, alpha-1,6-mannosyltransferase Variants: 0(0) , HGMD: 13, ClinVar: 17 Disease: | 30. ALG2 N ALG2, alpha-1,3/1,6-mannosyltransferase Variants: 0(0) , HGMD: 4, ClinVar: 10 Disease: |
31. ALG3 N ALG3, alpha-1,3- mannosyltransferase Variants: 0(0) , HGMD: 11, ClinVar: 6 Disease: | 32. ALG6 N ALG6, alpha-1,3-glucosyltransferase Variants: 0(0) , HGMD: 19, ClinVar: 20 Disease: | 33. ALG8 N ALG8, alpha-1,3-glucosyltransferase Variants: 0(0) , HGMD: 14, ClinVar: 15 Disease: |
34. ALG9 N ALG9, alpha-1,2-mannosyltransferase Variants: 0(0) , HGMD: , ClinVar: 9 Disease: | 35. AMACR N alpha-methylacyl-CoA racemase Variants: 1(1) , HGMD: 12, ClinVar: 0 Disease: | 36. AMT N aminomethyltransferase Variants: 102(102) , HGMD: 30, ClinVar: 22 Disease: 605899 GCE |
37. APEX2 N APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 38. APTX N aprataxin Variants: 25(25) , HGMD: 27, ClinVar: 28 Disease: | 39. ARG1 N arginase 1 Variants: 0(0) , HGMD: 40, ClinVar: 6 Disease: |
40. ARMS2 N age-related maculopathy susceptibility 2 Variants: 0(0) , HGMD: 2, ClinVar: 3 Disease: | 41. ASL N argininosuccinate lyase Variants: 0(0) , HGMD: 133, ClinVar: 55 Disease: | 42. ASS1 N argininosuccinate synthase 1 Variants: 15(15) , HGMD: 98, ClinVar: 50 Disease: |
43. ATL1 N atlastin GTPase 1 Variants: 0(0) , HGMD: 55, ClinVar: 32 Disease: | 44. ATM N ataxia telangiectasia mutated Variants: 0(0) , HGMD: 673, ClinVar: 1572 Disease: | 45. ATP5A1 N ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle Variants: 3(2) , HGMD: 3, ClinVar: 3 Disease: 615228, 616045 |
46. ATP5B N ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 47. ATP5C1 N ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 48. ATP5D N ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit Variants: 2(2) , HGMD: , ClinVar: 0 Disease: |
49. ATP5E N ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit Variants: 2(1) , HGMD: 1, ClinVar: 0 Disease: 614053 | 50. ATP5F1 N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 51. ATP5G1 N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
52. ATP5G2 N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 53. ATP5G3 N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 54. ATP5H N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
55. ATP5I N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 56. ATP5J N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 57. ATP5J2 N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
58. ATP5L N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 59. ATP5O N ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 60. ATP5S N ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
61. ATP7B N ATPase, Cu++ transporting, beta polypeptide Variants: 0(0) , HGMD: 761, ClinVar: 162 Disease: | 62. ATPAF1 N ATP synthase mitochondrial F1 complex assembly factor 1 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 63. ATPAF2 N ATP synthase mitochondrial F1 complex assembly factor 2 Variants: 19(18) , HGMD: 2, ClinVar: 14 Disease: 604273 |
64. ATPIF1 N ATPase inhibitory factor 1 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 65. ATXN10 N ataxin 10 Variants: 0(0) , HGMD: , ClinVar: 7 Disease: | 66. ATXN7 N ataxin 7 Variants: 0(0) , HGMD: , ClinVar: 7 Disease: |
67. AUH N AU RNA binding protein/enoyl-CoA hydratase Variants: 37(33) , HGMD: 10, ClinVar: 28 Disease: MGCA1 | 68. B4GALT1 N UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 Variants: 0(0) , HGMD: 1, ClinVar: 3 Disease: | 69. BCKDHA N branched chain keto acid dehydrogenase E1, alpha polypeptide Variants: 0(0) , HGMD: 67, ClinVar: 79 Disease: |
70. BCKDHB N branched chain keto acid dehydrogenase E1, beta polypeptide Variants: 0(0) , HGMD: 69, ClinVar: 85 Disease: | 71. BCS1L N BC1 (ubiquinol-cytochrome c reductase) synthesis-like Variants: 88(71) , HGMD: 28, ClinVar: 36 Disease: 603358, BJS, MC3DN1 | 72. BRAF N v-raf murine sarcoma viral oncogene homolog B Variants: 0(0) , HGMD: 53, ClinVar: 183 Disease: |
73. BTD N biotinidase Variants: 0(0) , HGMD: 156, ClinVar: 178 Disease: | 74. C10orf2 N chromosome 10 open reading frame 2 Variants: 101(83) , HGMD: 54, ClinVar: 51 Disease: MTDPS3, MTDPS7, PEOA3, SANDO | 75. C12orf65 N chromosome 12 open reading frame 65 Variants: 31(29) , HGMD: 8, ClinVar: 14 Disease: COXPD7 |
76. C14orf2 N chromosome 14 open reading frame 2 Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: | 77. CAPN3 N calpain 3, (p94) Variants: 0(0) , HGMD: 349, ClinVar: 90 Disease: | 78. CARS2 N cysteinyl-tRNA synthetase 2, mitochondrial (putative) Variants: 65(65) , HGMD: , ClinVar: 3 Disease: 616672 |
79. CAV3 N caveolin 3 Variants: 0(0) , HGMD: 40, ClinVar: 70 Disease: | 80. CDKL5 N cyclin-dependent kinase-like 5 Variants: 10(10) , HGMD: 161, ClinVar: 279 Disease: | 81. CHKB N choline kinase beta Variants: 41(39) , HGMD: 14, ClinVar: 0 Disease: MDCMC |
82. CISD2 N CDGSH iron sulfur domain 2 Variants: 1(1) , HGMD: 1, ClinVar: 0 Disease: WFS2 | 83. CLN3 N ceroid-lipofuscinosis, neuronal 3 Variants: 0(0) , HGMD: 55, ClinVar: 124 Disease: | 84. CLN5 N ceroid-lipofuscinosis, neuronal 5 Variants: 0(0) , HGMD: 39, ClinVar: 87 Disease: |
85. CLN6 N ceroid-lipofuscinosis, neuronal 6, late infantile, variant Variants: 0(0) , HGMD: 62, ClinVar: 71 Disease: | 86. CLN8 N ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) Variants: 0(0) , HGMD: 28, ClinVar: 70 Disease: | 87. CMC1 N C-x(9)-C motif containing 1 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
88. COG1 N component of oligomeric golgi complex 1 Variants: 0(0) , HGMD: 3, ClinVar: 20 Disease: | 89. COG7 N component of oligomeric golgi complex 7 Variants: 0(0) , HGMD: 4, ClinVar: 7 Disease: | 90. COG8 N component of oligomeric golgi complex 8 Variants: 0(0) , HGMD: 5, ClinVar: 6 Disease: |
91. COQ10A N coenzyme Q10 homolog A (S. cerevisiae) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 92. COQ10B N coenzyme Q10 homolog B (S. cerevisiae) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 93. COQ2 N coenzyme Q2 4-hydroxybenzoate polyprenyltransferase Variants: 32(28) , HGMD: 19, ClinVar: 37 Disease: COQ10D1 |
94. COQ3 N coenzyme Q3 methyltransferase Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 95. COQ4 N coenzyme Q4 Variants: 44(44) , HGMD: , ClinVar: 7 Disease: COQ10D7 | 96. COQ5 N coenzyme Q5 homolog, methyltransferase (S. cerevisiae) Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: |
97. COQ6 N coenzyme Q6 monooxygenase Variants: 13(11) , HGMD: 7, ClinVar: 13 Disease: COQ10D6 | 98. COQ7 N coenzyme Q7 homolog, ubiquinone (yeast) Variants: 3(3) , HGMD: , ClinVar: 1 Disease: COQ10D8 | 99. COQ9 N coenzyme Q9 Variants: 31(30) , HGMD: 1, ClinVar: 19 Disease: COQ10D5 |
100. COX10 N cytochrome c oxidase assembly homolog 10 (yeast) Variants: 69(64) , HGMD: 7, ClinVar: 22 Disease: 220110 | 101. COX11 N cytochrome c oxidase assembly homolog 11 (yeast) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 102. COX15 N cytochrome c oxidase assembly homolog 15 (yeast) Variants: 84(83) , HGMD: 4, ClinVar: 27 Disease: 615119 |
103. COX17 N COX17 cytochrome c oxidase copper chaperone Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 104. COX18 N COX18 cytochrome C oxidase assembly factor Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 105. COX19 N cytochrome c oxidase assembly homolog 19 (S. cerevisiae) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
106. COX4I1 N cytochrome c oxidase subunit IV isoform 1 Variants: 0(0) , HGMD: 2, ClinVar: 0 Disease: | 107. COX4I2 N cytochrome c oxidase subunit IV isoform 2 (lung) Variants: 0(0) , HGMD: 1, ClinVar: 2 Disease: | 108. COX5A N cytochrome c oxidase subunit Va Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
109. COX5B N cytochrome c oxidase subunit Vb Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 110. COX6A1 N cytochrome c oxidase subunit VIa polypeptide 1 Variants: 0(0) , HGMD: , ClinVar: 1 Disease: | 111. COX6A2 N cytochrome c oxidase subunit VIa polypeptide 2 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
112. COX6B1 N cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) Variants: 10(7) , HGMD: 2, ClinVar: 6 Disease: 220110 | 113. COX6B2 N cytochrome c oxidase subunit VIb polypeptide 2 (testis) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 114. COX6C N cytochrome c oxidase subunit VIc Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
115. COX7A1 N cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 116. COX7A2 N cytochrome c oxidase subunit VIIa polypeptide 2 (liver) Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: | 117. COX7A2L N cytochrome c oxidase subunit VIIa polypeptide 2 like Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
118. COX7B N cytochrome c oxidase subunit VIIb Variants: 0(0) , HGMD: 3, ClinVar: 3 Disease: | 119. COX7B2 N cytochrome c oxidase subunit VIIb2 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 120. COX7C N cytochrome c oxidase subunit VIIc Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
121. COX8A N cytochrome c oxidase subunit VIIIA (ubiquitous) Variants: 1(1) , HGMD: , ClinVar: 1 Disease: 220110 | 122. COX8C N cytochrome c oxidase subunit VIIIC Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 123. CPOX N coproporphyrinogen oxidase Variants: 0(0) , HGMD: 62, ClinVar: 15 Disease: |
124. CPS1 N carbamoyl-phosphate synthase 1, mitochondrial Variants: 210(200) , HGMD: 234, ClinVar: 32 Disease: 237300, PHN | 125. CPT1A N carnitine palmitoyltransferase 1A (liver) Variants: 101(71) , HGMD: 39, ClinVar: 52 Disease: 255120 | 126. CPT2 N carnitine palmitoyltransferase 2 Variants: 100(87) , HGMD: 97, ClinVar: 55 Disease: 255110, 608836, CPT II |
127. CRLS1 N cardiolipin synthase 1 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 128. CRYAB N crystallin, alpha B Variants: 0(0) , HGMD: 20, ClinVar: 30 Disease: | 129. CTNS N cystinosin, lysosomal cystine transporter Variants: 0(0) , HGMD: 104, ClinVar: 37 Disease: |
130. CTSD N cathepsin D Variants: 0(0) , HGMD: 7, ClinVar: 76 Disease: | 131. CYB5A N cytochrome b5 type A (microsomal) Variants: 0(0) , HGMD: 6, ClinVar: 1 Disease: | 132. CYB5R3 N cytochrome b5 reductase 3 Variants: 0(0) , HGMD: 59, ClinVar: 19 Disease: 250800 |
133. CYBA N cytochrome b-245, alpha polypeptide Variants: 31(31) , HGMD: 54, ClinVar: 19 Disease: 233690 | 134. CYBB N cytochrome b-245, beta polypeptide Variants: 0(0) , HGMD: 569, ClinVar: 83 Disease: | 135. CYC1 N cytochrome c-1 Variants: 4(2) , HGMD: 2, ClinVar: 2 Disease: MC3DN6 |
136. CYCS N cytochrome c, somatic Variants: 0(0) , HGMD: 2, ClinVar: 2 Disease: | 137. CYP11A1 N cytochrome P450, family 11, subfamily A, polypeptide 1 Variants: 0(0) , HGMD: 16, ClinVar: 9 Disease: | 138. CYP11B1 N cytochrome P450, family 11, subfamily B, polypeptide 1 Variants: 0(0) , HGMD: 99, ClinVar: 6 Disease: |
139. CYP11B2 N cytochrome P450, family 11, subfamily B, polypeptide 2 Variants: 0(0) , HGMD: 42, ClinVar: 4 Disease: | 140. CYP27A1 N cytochrome P450, family 27, subfamily A, polypeptide 1 Variants: 0(0) , HGMD: 84, ClinVar: 66 Disease: | 141. CYP27B1 N cytochrome P450, family 27, subfamily B, polypeptide 1 Variants: 0(0) , HGMD: 63, ClinVar: 17 Disease: |
142. CYP7B1 N cytochrome P450, family 7, subfamily B, polypeptide 1 Variants: 0(0) , HGMD: 34, ClinVar: 19 Disease: | 143. D2HGDH N D-2-hydroxyglutarate dehydrogenase Variants: 4(4) , HGMD: 30, ClinVar: 42 Disease: | 144. DARS2 N aspartyl-tRNA synthetase 2, mitochondrial Variants: 60(48) , HGMD: 50, ClinVar: 24 Disease: 611105 |
145. DBT N dihydrolipoamide branched chain transacylase E2 Variants: 0(0) , HGMD: 54, ClinVar: 65 Disease: | 146. DCX N doublecortin Variants: 0(0) , HGMD: 119, ClinVar: 122 Disease: | 147. DECR1 N 2,4-dienoyl CoA reductase 1, mitochondrial Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
148. DGUOK N deoxyguanosine kinase Variants: 49(44) , HGMD: 54, ClinVar: 24 Disease: 617070, MTDPS3 | 149. DLAT N dihydrolipoamide S-acetyltransferase Variants: 14(13) , HGMD: 4, ClinVar: 20 Disease: PDHDD | 150. DLD N dihydrolipoamide dehydrogenase Variants: 42(42) , HGMD: 19, ClinVar: 40 Disease: |
151. DLST N dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 152. DMGDH N dimethylglycine dehydrogenase Variants: 0(0) , HGMD: 1, ClinVar: 1 Disease: | 153. DMPK N dystrophia myotonica-protein kinase Variants: 0(0) , HGMD: , ClinVar: 148 Disease: |
154. DNAJC19 N DnaJ (Hsp40) homolog, subfamily C, member 19 Variants: 26(22) , HGMD: 2, ClinVar: 9 Disease: MGCA5 | 155. DNM1L N dynamin 1-like Variants: 24(24) , HGMD: 1, ClinVar: 7 Disease: 614388 | 156. DNM2 N dynamin 2 Variants: 0(0) , HGMD: 36, ClinVar: 49 Disease: |
157. DOLK N dolichol kinase Variants: 0(0) , HGMD: 7, ClinVar: 23 Disease: | 158. DPAGT1 N dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) Variants: 0(0) , HGMD: 24, ClinVar: 16 Disease: | 159. DPM1 N dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit Variants: 0(0) , HGMD: 8, ClinVar: 4 Disease: |
160. DPM3 N dolichyl-phosphate mannosyltransferase polypeptide 3 Variants: 0(0) , HGMD: 1, ClinVar: 3 Disease: | 161. EARS2 N glutamyl-tRNA synthetase 2, mitochondrial Variants: 71(64) , HGMD: 17, ClinVar: 16 Disease: 614924 | 162. ECSIT N ECSIT signalling integrator Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: |
163. EIF2AK3 N eukaryotic translation initiation factor 2-alpha kinase 3 Variants: 0(0) , HGMD: 61, ClinVar: 14 Disease: | 164. ELOVL4 N ELOVL fatty acid elongase 4 Variants: 0(0) , HGMD: 9, ClinVar: 10 Disease: | 165. ETFA N electron-transfer-flavoprotein, alpha polypeptide Variants: 29(28) , HGMD: 26, ClinVar: 17 Disease: MADD |
166. ETFB N electron-transfer-flavoprotein, beta polypeptide Variants: 14(14) , HGMD: 12, ClinVar: 24 Disease: MADD | 167. ETFDH N electron-transferring-flavoprotein dehydrogenase Variants: 55(55) , HGMD: 141, ClinVar: 50 Disease: MADD | 168. ETHE1 N ethylmalonic encephalopathy 1 Variants: 98(53) , HGMD: 26, ClinVar: 21 Disease: EE 602473 |
169. FA2H N fatty acid 2-hydroxylase Variants: 0(0) , HGMD: 17, ClinVar: 21 Disease: | 170. FARS2 N phenylalanyl-tRNA synthetase 2, mitochondrial Variants: 82(79) , HGMD: 5, ClinVar: 24 Disease: COXPD14 | 171. FASTKD2 N FAST kinase domains 2 Variants: 84(83) , HGMD: 1, ClinVar: 23 Disease: 220110 |
172. FECH N ferrochelatase Variants: 0(0) , HGMD: 175, ClinVar: 18 Disease: | 173. FGF14 N fibroblast growth factor 14 Variants: 0(0) , HGMD: 2, ClinVar: 2 Disease: | 174. FH N fumarate hydratase Variants: 0(0) , HGMD: 138, ClinVar: 147 Disease: |
175. FOXG1 N forkhead box G1 Variants: 0(0) , HGMD: 33, ClinVar: 125 Disease: | 176. FOXRED1 N FAD-dependent oxidoreductase domain containing 1 Variants: 44(41) , HGMD: 6, ClinVar: 32 Disease: 252010, 618241 | 177. FXN N frataxin Variants: 3(3) , HGMD: 51, ClinVar: 13 Disease: FRDA;FRDA1;FA |
178. GAA N glucosidase, alpha; acid Variants: 0(0) , HGMD: 442, ClinVar: 125 Disease: | 179. GAD1 N glutamate decarboxylase 1 (brain, 67kDa) Variants: 0(0) , HGMD: 4, ClinVar: 2 Disease: | 180. GAMT N guanidinoacetate N-methyltransferase Variants: 19(14) , HGMD: 47, ClinVar: 62 Disease: |
181. GARS N glycyl-tRNA synthetase Variants: 0(0) , HGMD: 16, ClinVar: 26 Disease: | 182. GATM N glycine amidinotransferase (L-arginine:glycine amidinotransferase) Variants: 60(54) , HGMD: 7, ClinVar: 35 Disease: CCDS3 | 183. GCDH N glutaryl-CoA dehydrogenase Variants: 9(9) , HGMD: 165, ClinVar: 41 Disease: |
184. GCK N glucokinase (hexokinase 4) Variants: 6(6) , HGMD: 705, ClinVar: 146 Disease: NIDDM | 185. GCSH N glycine cleavage system protein H (aminomethyl carrier) Variants: 16(16) , HGMD: 1, ClinVar: 2 Disease: 605899 GCE | 186. GDAP1 N ganglioside induced differentiation associated protein 1 Variants: 0(0) , HGMD: 61, ClinVar: 29 Disease: |
187. GFER N growth factor, augmenter of liver regeneration Variants: 5(4) , HGMD: 1, ClinVar: 13 Disease: 613076 | 188. GFM1 N G elongation factor, mitochondrial 1 Variants: 61(57) , HGMD: 12, ClinVar: 38 Disease: COXPD1 | 189. GK N glycerol kinase Variants: 0(0) , HGMD: 28, ClinVar: 10 Disease: |
190. GLA N galactosidase, alpha Variants: 0(0) , HGMD: 727, ClinVar: 21 Disease: | 191. GLDC N glycine dehydrogenase (decarboxylating) Variants: 311(310) , HGMD: 102, ClinVar: 88 Disease: 605899 GCE | 192. GLRX5 N glutaredoxin 5 Variants: 0(0) , HGMD: 3, ClinVar: 6 Disease: |
193. GLUD1 N glutamate dehydrogenase 1 Variants: 0(0) , HGMD: 33, ClinVar: 16 Disease: | 194. GNPAT N glyceronephosphate O-acyltransferase Variants: 0(0) , HGMD: 13, ClinVar: 12 Disease: | 195. GPD2 N glycerol-3-phosphate dehydrogenase 2 (mitochondrial) Variants: 2(1) , HGMD: 3, ClinVar: 1 Disease: NIDDM |
196. GPHN N gephyrin Variants: 0(0) , HGMD: 2, ClinVar: 8 Disease: | 197. HADH N hydroxyacyl-CoA dehydrogenase Variants: 30(28) , HGMD: 19, ClinVar: 14 Disease: HADH Dificiency | 198. HADHA N hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit Variants: 130(123) , HGMD: 61, ClinVar: 21 Disease: 609015, LCHAD |
199. HADHB N hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit Variants: 64(59) , HGMD: 51, ClinVar: 20 Disease: 609015 | 200. HARS2 N histidyl-tRNA synthetase 2, mitochondrial Variants: 10(9) , HGMD: 2, ClinVar: 23 Disease: PRLTS2 | 201. HAX1 N HCLS1 associated protein X-1 Variants: 0(0) , HGMD: 16, ClinVar: 11 Disease: |
202. HCCS N holocytochrome c synthase Variants: 0(0) , HGMD: 4, ClinVar: 10 Disease: | 203. HFE N hemochromatosis Variants: 9(9) , HGMD: 47, ClinVar: 18 Disease: | 204. HK1 N hexokinase 1 Variants: 0(0) , HGMD: 3, ClinVar: 5 Disease: |
205. HLCS N holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) Variants: 0(0) , HGMD: 38, ClinVar: 46 Disease: | 206. HMGCL N 3-hydroxymethyl-3-methylglutaryl-CoA lyase Variants: 0(0) , HGMD: 43, ClinVar: 9 Disease: | 207. HMGCS2 N 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) Variants: 45(39) , HGMD: 18, ClinVar: 11 Disease: 605911 |
208. HSD17B10 N hydroxysteroid (17-beta) dehydrogenase 10 Variants: 13(13) , HGMD: 10, ClinVar: 10 Disease: 300438 | 209. HSD3B2 N hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 Variants: 0(0) , HGMD: 47, ClinVar: 12 Disease: | 210. HSPD1 N heat shock 60kDa protein 1 (chaperonin) Variants: 2(1) , HGMD: 4, ClinVar: 20 Disease: HLD4 |
211. IARS2 N isoleucyl-tRNA synthetase 2, mitochondrial Variants: 2(2) , HGMD: , ClinVar: 3 Disease: | 212. IDH2 N isocitrate dehydrogenase 2 (NADP+), mitochondrial Variants: 7(5) , HGMD: 2, ClinVar: 14 Disease: 613657 | 213. ISCU N iron-sulfur cluster assembly enzyme Variants: 3(2) , HGMD: 2, ClinVar: 10 Disease: HML |
214. ITPR1 N inositol 1,4,5-trisphosphate receptor, type 1 Variants: 0(0) , HGMD: 6, ClinVar: 18 Disease: | 215. IVD N isovaleryl-CoA dehydrogenase Variants: 0(0) , HGMD: 55, ClinVar: 37 Disease: | 216. KARS N lysyl-tRNA synthetase Variants: 0(0) , HGMD: 7, ClinVar: 22 Disease: |
217. KCNC3 N potassium voltage-gated channel, Shaw-related subfamily, member 3 Variants: 0(0) , HGMD: 5, ClinVar: 6 Disease: | 218. KCNJ11 N potassium inwardly-rectifying channel, subfamily J, member 11 Variants: 7(6) , HGMD: 147, ClinVar: 76 Disease: NIDDM | 219. KIAA0196 N KIAA0196 Variants: 0(0) , HGMD: 9, ClinVar: 21 Disease: |
220. KIAA0226 N KIAA0226 Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: | 221. KIF1B N kinesin family member 1B Variants: 0(0) , HGMD: 7, ClinVar: 31 Disease: | 222. KIF5A N kinesin family member 5A Variants: 0(0) , HGMD: 23, ClinVar: 16 Disease: |
223. LARS2 N leucyl-tRNA synthetase 2, mitochondrial Variants: 15(12) , HGMD: 4, ClinVar: 27 Disease: PRLTS4 | 224. LETM1 N leucine zipper-EF-hand containing transmembrane protein 1 Variants: 0(0) , HGMD: , ClinVar: 2 Disease: | 225. LMBRD1 N LMBR1 domain containing 1 Variants: 0(0) , HGMD: 8, ClinVar: 6 Disease: |
226. LRPPRC N leucine-rich pentatricopeptide repeat containing Variants: 169(168) , HGMD: 2, ClinVar: 72 Disease: LSFC | 227. MAOA N monoamine oxidase A Variants: 0(0) , HGMD: 3, ClinVar: 13 Disease: | 228. MAPT N microtubule-associated protein tau Variants: 0(0) , HGMD: 79, ClinVar: 70 Disease: |
229. MARS2 N methionyl-tRNA synthetase 2, mitochondrial Variants: 2(2) , HGMD: , ClinVar: 17 Disease: 616430 | 230. MCCC1 N methylcrotonoyl-CoA carboxylase 1 (alpha) Variants: 0(0) , HGMD: 63, ClinVar: 37 Disease: | 231. MCCC2 N methylcrotonoyl-CoA carboxylase 2 (beta) Variants: 0(0) , HGMD: 84, ClinVar: 35 Disease: |
232. ME2 N malic enzyme 2, NAD(+)-dependent, mitochondrial Variants: 0(0) , HGMD: , ClinVar: 1 Disease: | 233. MECP2 N methyl CpG binding protein 2 (Rett syndrome) Variants: 0(0) , HGMD: 391, ClinVar: 862 Disease: | 234. MFN2 N mitofusin 2 Variants: 40(35) , HGMD: 144, ClinVar: 77 Disease: CMT2A2, HSMN6, MSL |
235. MFSD8 N major facilitator superfamily domain containing 8 Variants: 0(0) , HGMD: 32, ClinVar: 68 Disease: | 236. MGAT2 N mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase Variants: 0(0) , HGMD: 5, ClinVar: 7 Disease: | 237. MLYCD N malonyl-CoA decarboxylase Variants: 0(0) , HGMD: 28, ClinVar: 18 Disease: |
238. MMAA N methylmalonic aciduria (cobalamin deficiency) cblA type Variants: 0(0) , HGMD: 43, ClinVar: 26 Disease: | 239. MMAB N methylmalonic aciduria (cobalamin deficiency) cblB type Variants: 0(0) , HGMD: 32, ClinVar: 25 Disease: | 240. MMACHC N methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria Variants: 0(0) , HGMD: 72, ClinVar: 34 Disease: |
241. MMADHC N methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria Variants: 0(0) , HGMD: 13, ClinVar: 18 Disease: | 242. MOCS1 N molybdenum cofactor synthesis 1 Variants: 0(0) , HGMD: 31, ClinVar: 7 Disease: | 243. MOCS2 N molybdenum cofactor synthesis 2 Variants: 0(0) , HGMD: 11, ClinVar: 10 Disease: |
244. MOGS N mannosyl-oligosaccharide glucosidase Variants: 0(0) , HGMD: 2, ClinVar: 14 Disease: | 245. MPDU1 N mannose-P-dolichol utilization defect 1 Variants: 0(0) , HGMD: 5, ClinVar: 6 Disease: | 246. MPI N mannose phosphate isomerase Variants: 0(0) , HGMD: 18, ClinVar: 20 Disease: |
247. MPV17 N MpV17 mitochondrial inner membrane protein Variants: 64(46) , HGMD: 32, ClinVar: 29 Disease: MTDPS6 | 248. MRPS16 N mitochondrial ribosomal protein S16 Variants: 52(51) , HGMD: 1, ClinVar: 0 Disease: COXPD2 | 249. MRPS22 N mitochondrial ribosomal protein S22 Variants: 18(16) , HGMD: 2, ClinVar: 15 Disease: COXPD5 |
250. MTFMT N mitochondrial methionyl-tRNA formyltransferase Variants: 23(15) , HGMD: 13, ClinVar: 17 Disease: 618248, COXPD15 | 251. MTHFD1 N methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase Variants: 0(0) , HGMD: 6, ClinVar: 4 Disease: | 252. MTO1 N mitochondrial tRNA translation optimization 1 Variants: 52(48) , HGMD: 5, ClinVar: 10 Disease: COXPD10 |
253. MTPAP N mitochondrial poly(A) polymerase Variants: 6(5) , HGMD: 1, ClinVar: 5 Disease: SPAX4 | 254. MTRR N 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Variants: 0(0) , HGMD: 24, ClinVar: 27 Disease: | 255. MUT N methylmalonyl CoA mutase Variants: 0(0) , HGMD: 245, ClinVar: 97 Disease: |
256. MUTYH N mutY homolog Variants: 1(1) , HGMD: 107, ClinVar: 386 Disease: | 257. MYH7 N myosin, heavy chain 7, cardiac muscle, beta Variants: 36(36) , HGMD: 513, ClinVar: 896 Disease: | 258. NAGS N N-acetylglutamate synthase Variants: 0(0) , HGMD: 23, ClinVar: 0 Disease: |
259. NARS2 N asparaginyl-tRNA synthetase 2, mitochondrial (putative) Variants: 14(14) , HGMD: 1, ClinVar: 2 Disease: 616239 | 260. NDUFA1 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa Variants: 6(3) , HGMD: 3, ClinVar: 6 Disease: 252010, 301020 | 261. NDUFA10 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa Variants: 71(69) , HGMD: 3, ClinVar: 21 Disease: 618243 |
262. NDUFA11 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa Variants: 17(17) , HGMD: 1, ClinVar: 10 Disease: 252010, 618236 | 263. NDUFA12 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 Variants: 2(1) , HGMD: 1, ClinVar: 3 Disease: 618244 | 264. NDUFA13 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 Variants: 1(1) , HGMD: 1, ClinVar: 1 Disease: 618249 |
265. NDUFA2 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa Variants: 11(11) , HGMD: 1, ClinVar: 5 Disease: 618235 | 266. NDUFA3 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 267. NDUFA4 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa Variants: 0(0) , HGMD: 2, ClinVar: 1 Disease: |
268. NDUFA4L2 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 269. NDUFA5 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 270. NDUFA6 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa Variants: 6(6) , HGMD: 2, ClinVar: 1 Disease: 618253 |
271. NDUFA7 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 272. NDUFA8 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa Variants: 0(0) , HGMD: 2, ClinVar: 0 Disease: | 273. NDUFA9 N NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa Variants: 4(3) , HGMD: 1, ClinVar: 19 Disease: 618247 |
274. NDUFAB1 N NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 275. NDUFAF1 N NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 Variants: 29(26) , HGMD: 7, ClinVar: 24 Disease: 252010, 618234 | 276. NDUFAF2 N NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 Variants: 21(20) , HGMD: 6, ClinVar: 13 Disease: 252010, MC1DN10 618233 |
277. NDUFAF3 N NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 Variants: 26(23) , HGMD: 4, ClinVar: 10 Disease: 252010, 618240 | 278. NDUFAF4 N NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 Variants: 43(42) , HGMD: 2, ClinVar: 9 Disease: 252010, 618237 | 279. NDUFB1 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: |
280. NDUFB10 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa Variants: 2(2) , HGMD: , ClinVar: 0 Disease: | 281. NDUFB11 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa Variants: 2(2) , HGMD: , ClinVar: 2 Disease: 252010, 301021 | 282. NDUFB2 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
283. NDUFB3 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa Variants: 3(2) , HGMD: 2, ClinVar: 3 Disease: 252010, 618246 | 284. NDUFB4 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 285. NDUFB5 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
286. NDUFB6 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: | 287. NDUFB7 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 288. NDUFB8 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa Variants: 4(4) , HGMD: , ClinVar: 0 Disease: 618252 |
289. NDUFB9 N NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa Variants: 1(1) , HGMD: 2, ClinVar: 9 Disease: 252010, 618245 | 290. NDUFC1 N NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 291. NDUFC2 N NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: |
292. NDUFS1 N NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) Variants: 64(56) , HGMD: 18, ClinVar: 40 Disease: 252010, 618226 | 293. NDUFS2 N NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) Variants: 48(45) , HGMD: 18, ClinVar: 28 Disease: 252010, 618228 | 294. NDUFS3 N NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) Variants: 18(16) , HGMD: 3, ClinVar: 10 Disease: 252010, 618230 |
295. NDUFS4 N NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) Variants: 26(22) , HGMD: 12, ClinVar: 20 Disease: 252010 | 296. NDUFS5 N NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: | 297. NDUFS6 N NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) Variants: 12(11) , HGMD: 3, ClinVar: 10 Disease: 252010, 618232 |
298. NDUFS7 N NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) Variants: 17(15) , HGMD: 4, ClinVar: 19 Disease: 618224 | 299. NDUFS8 N NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) Variants: 36(29) , HGMD: 12, ClinVar: 15 Disease: 252010, 618222 | 300. NDUFV1 N NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa Variants: 44(41) , HGMD: 26, ClinVar: 34 Disease: 252010, 618225 |
301. NDUFV2 N NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa Variants: 18(17) , HGMD: 3, ClinVar: 5 Disease: 252010, 556500, 618229 | 302. NDUFV3 N NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa Variants: 0(0) , HGMD: 5, ClinVar: 0 Disease: | 303. NEFL N neurofilament, light polypeptide Variants: 0(0) , HGMD: , ClinVar: 61 Disease: |
304. NIPA1 N non imprinted in Prader-Willi/Angelman syndrome 1 Variants: 0(0) , HGMD: 10, ClinVar: 10 Disease: | 305. NKX2-1 N NK2 homeobox 1 Variants: 0(0) , HGMD: 85, ClinVar: 12 Disease: | 306. NPC1 N Niemann-Pick disease, type C1 Variants: 0(0) , HGMD: 360, ClinVar: 100 Disease: |
307. NPC2 N Niemann-Pick disease, type C2 Variants: 0(0) , HGMD: 23, ClinVar: 19 Disease: | 308. NUBPL N nucleotide binding protein-like Variants: 80(77) , HGMD: 6, ClinVar: 24 Disease: 252010, 618242 | 309. OAT N ornithine aminotransferase Variants: 0(0) , HGMD: 64, ClinVar: 70 Disease: |
310. OGDH N oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 311. OPA1 N optic atrophy 1 (autosomal dominant) Variants: 77(64) , HGMD: 276, ClinVar: 112 Disease: 616896, DOA+, OPA1 | 312. OPA3 N optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Variants: 186(184) , HGMD: 9, ClinVar: 14 Disease: MGCA3 |
313. OTC N ornithine carbamoyltransferase Variants: 0(0) , HGMD: 408, ClinVar: 340 Disease: | 314. OXA1L N oxidase (cytochrome c) assembly 1-like Variants: 2(2) , HGMD: , ClinVar: 1 Disease: | 315. OXCT1 N 3-oxoacid CoA transferase 1 Variants: 0(0) , HGMD: 24, ClinVar: 16 Disease: |
316. PAFAH1B1 N platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) Variants: 0(0) , HGMD: 65, ClinVar: 119 Disease: | 317. PANK2 N pantothenate kinase 2 Variants: 8(8) , HGMD: 127, ClinVar: 20 Disease: | 318. PARL N presenilin associated, rhomboid-like Variants: 0(0) , HGMD: 3, ClinVar: 1 Disease: |
319. PARS2 N prolyl-tRNA synthetase 2, mitochondrial (putative) Variants: 0(0) , HGMD: , ClinVar: 2 Disease: | 320. PC N pyruvate carboxylase Variants: 126(95) , HGMD: 31, ClinVar: 64 Disease: 266150 | 321. PCCA N propionyl CoA carboxylase, alpha polypeptide Variants: 0(0) , HGMD: 80, ClinVar: 33 Disease: |
322. PCCB N propionyl CoA carboxylase, beta polypeptide Variants: 0(0) , HGMD: 99, ClinVar: 47 Disease: | 323. PCK2 N phosphoenolpyruvate carboxykinase 2 (mitochondrial) Variants: 2(2) , HGMD: 2, ClinVar: 0 Disease: 261650 | 324. PDHA1 N pyruvate dehydrogenase (lipoamide) alpha 1 Variants: 58(46) , HGMD: 136, ClinVar: 55 Disease: 308930, PDHAD |
325. PDHB N pyruvate dehydrogenase (lipoamide) beta Variants: 6(4) , HGMD: 12, ClinVar: 13 Disease: PDHBD | 326. PDHX N pyruvate dehydrogenase complex, component X Variants: 4(4) , HGMD: 15, ClinVar: 40 Disease: | 327. PDP1 N pyruvate dehyrogenase phosphatase catalytic subunit 1 Variants: 46(45) , HGMD: 2, ClinVar: 6 Disease: PDHPD |
328. PDSS1 N prenyl (decaprenyl) diphosphate synthase, subunit 1 Variants: 28(27) , HGMD: 1, ClinVar: 19 Disease: COQ10D2 | 329. PDSS2 N prenyl (decaprenyl) diphosphate synthase, subunit 2 Variants: 42(40) , HGMD: 2, ClinVar: 14 Disease: COQ10D3 | 330. PDX1 N pancreatic and duodenal homeobox 1 Variants: 5(5) , HGMD: 23, ClinVar: 14 Disease: NIDDM |
331. PEX13 N peroxisomal biogenesis factor 13 Variants: 0(0) , HGMD: 9, ClinVar: 7 Disease: | 332. PHB N prohibitin Variants: 0(0) , HGMD: 2, ClinVar: 1 Disease: | 333. PHYH N phytanoyl-CoA 2-hydroxylase Variants: 0(0) , HGMD: 30, ClinVar: 17 Disease: |
334. PLP1 N proteolipid protein 1 Variants: 0(0) , HGMD: 173, ClinVar: 39 Disease: | 335. PMM2 N phosphomannomutase 2 Variants: 0(0) , HGMD: 115, ClinVar: 46 Disease: | 336. PNKD N paroxysmal nonkinesigenic dyskinesia Variants: 0(0) , HGMD: 3, ClinVar: 3 Disease: |
337. PNPLA2 N patatin-like phospholipase domain containing 2 Variants: 0(0) , HGMD: 40, ClinVar: 11 Disease: | 338. PNPLA3 N patatin-like phospholipase domain containing 3 Variants: 0(0) , HGMD: 4, ClinVar: 0 Disease: | 339. POLG N polymerase (DNA directed), gamma Variants: 772(651) , HGMD: 224, ClinVar: 273 Disease: 258450, MTDPS1, MTDPS4A, MTDPS4B, PEOA1, SANDO |
340. POLG2 N polymerase (DNA directed), gamma 2, accessory subunit Variants: 27(20) , HGMD: 9, ClinVar: 22 Disease: 610131 | 341. PPM1B N protein phosphatase, Mg2+/Mn2+ dependent, 1B Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 342. PPOX N protoporphyrinogen oxidase Variants: 0(0) , HGMD: 170, ClinVar: 14 Disease: |
343. PPT1 N palmitoyl-protein thioesterase 1 Variants: 0(0) , HGMD: 67, ClinVar: 99 Disease: | 344. PREPL N prolyl endopeptidase-like Variants: 3(3) , HGMD: 2, ClinVar: 0 Disease: | 345. PRKCG N protein kinase C, gamma Variants: 0(0) , HGMD: 32, ClinVar: 46 Disease: |
346. PRODH N proline dehydrogenase (oxidase) 1 Variants: 0(0) , HGMD: 20, ClinVar: 10 Disease: | 347. PUS1 N pseudouridylate synthase 1 Variants: 34(30) , HGMD: 4, ClinVar: 27 Disease: MLASA1 | 348. RARS2 N arginyl-tRNA synthetase 2, mitochondrial Variants: 21(19) , HGMD: 15, ClinVar: 56 Disease: PCH6 |
349. REEP1 N receptor accessory protein 1 Variants: 0(0) , HGMD: 42, ClinVar: 22 Disease: | 350. RFT1 N RFT1 homolog (S. cerevisiae) Variants: 0(0) , HGMD: 7, ClinVar: 12 Disease: | 351. RMRP N RNA component of mitochondrial RNA processing endoribonuclease Variants: 0(0) , HGMD: 64, ClinVar: 28 Disease: |
352. RNASEH2A N ribonuclease H2, subunit A Variants: 0(0) , HGMD: 17, ClinVar: 12 Disease: | 353. RNASEH2B N ribonuclease H2, subunit B Variants: 0(0) , HGMD: 33, ClinVar: 3 Disease: | 354. RNASEH2C N ribonuclease H2, subunit C Variants: 0(0) , HGMD: 11, ClinVar: 5 Disease: |
355. RRM2B N ribonucleotide reductase M2 B (TP53 inducible) Variants: 122(108) , HGMD: 39, ClinVar: 58 Disease: 612075, PEOA5 | 356. RYR1 N ryanodine receptor 1 (skeletal) Variants: 0(0) , HGMD: 464, ClinVar: 635 Disease: | 357. SAMHD1 N SAM domain and HD domain 1 Variants: 0(0) , HGMD: 28, ClinVar: 23 Disease: |
358. SARS2 N seryl-tRNA synthetase 2, mitochondrial Variants: 0(0) , HGMD: 2, ClinVar: 20 Disease: | 359. SCN1A N sodium channel, voltage-gated, type I, alpha subunit Variants: 12(12) , HGMD: 1005, ClinVar: 376 Disease: | 360. SCO1 N SCO1 cytochrome c oxidase assembly protein Variants: 34(33) , HGMD: 5, ClinVar: 16 Disease: 220110 |
361. SCO2 N SCO2 cytochrome c oxidase assembly protein Variants: 90(76) , HGMD: 22, ClinVar: 2 Disease: CEMCOX1 | 362. SDHA N succinate dehydrogenase complex, subunit A, flavoprotein (Fp) Variants: 577(568) , HGMD: 28, ClinVar: 66 Disease: 252011, CMD1GG | 363. SDHAF1 N succinate dehydrogenase complex assembly factor 1 Variants: 10(8) , HGMD: 4, ClinVar: 7 Disease: 252011 |
364. SDHAF2 N succinate dehydrogenase complex assembly factor 2 Variants: 0(0) , HGMD: 3, ClinVar: 11 Disease: | 365. SDHB N succinate dehydrogenase complex, subunit B, iron sulfur (Ip) Variants: 0(0) , HGMD: 185, ClinVar: 112 Disease: | 366. SDHC N succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa Variants: 0(0) , HGMD: 42, ClinVar: 37 Disease: |
367. SDHD N succinate dehydrogenase complex, subunit D, integral membrane protein Variants: 7(7) , HGMD: 132, ClinVar: 61 Disease: 252011 | 368. SGCD N sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) Variants: 1(1) , HGMD: 13, ClinVar: 65 Disease: | 369. SLC12A3 N solute carrier family 12 (sodium/chloride transporter), member 3 Variants: 0(0) , HGMD: 397, ClinVar: 25 Disease: |
370. SLC16A2 N solute carrier family 16, member 2 (thyroid hormone transporter) Variants: 0(0) , HGMD: 45, ClinVar: 45 Disease: | 371. SLC19A2 N solute carrier family 19 (thiamine transporter), member 2 Variants: 0(0) , HGMD: 42, ClinVar: 13 Disease: | 372. SLC22A5 N solute carrier family 22 (organic cation/carnitine transporter), member 5 Variants: 394(286) , HGMD: 97, ClinVar: 135 Disease: CDSP |
373. SLC25A12 N solute carrier family 25 (aspartate/glutamate carrier), member 12 Variants: 41(40) , HGMD: 3, ClinVar: 2 Disease: 612949 | 374. SLC25A13 N solute carrier family 25 (aspartate/glutamate carrier), member 13 Variants: 53(35) , HGMD: 79, ClinVar: 22 Disease: 605814, CTLN2 | 375. SLC25A15 N solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 Variants: 99(81) , HGMD: 33, ClinVar: 22 Disease: 238970 |
376. SLC25A16 N solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 Variants: 0(0) , HGMD: , ClinVar: 1 Disease: | 377. SLC25A19 N solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 Variants: 22(21) , HGMD: 2, ClinVar: 14 Disease: MCPHA | 378. SLC25A20 N solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 Variants: 47(40) , HGMD: 34, ClinVar: 12 Disease: CACTD |
379. SLC25A22 N solute carrier family 25 (mitochondrial carrier: glutamate), member 22 Variants: 18(15) , HGMD: 3, ClinVar: 71 Disease: EIEE3 | 380. SLC25A3 N solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 Variants: 23(22) , HGMD: 3, ClinVar: 11 Disease: 610773 | 381. SLC25A38 N solute carrier family 25, member 38 Variants: 0(0) , HGMD: 21, ClinVar: 5 Disease: |
382. SLC25A4 N solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 Variants: 66(60) , HGMD: 9, ClinVar: 15 Disease: 609283, 617184, MTDPS12 | 383. SLC29A3 N solute carrier family 29 (equilibrative nucleoside transporter), member 3 Variants: 0(0) , HGMD: 20, ClinVar: 31 Disease: | 384. SLC2A1 N solute carrier family 2 (facilitated glucose transporter), member 1 Variants: 0(0) , HGMD: 174, ClinVar: 143 Disease: |
385. SLC2A10 N solute carrier family 2 (facilitated glucose transporter), member 10 Variants: 0(0) , HGMD: 22, ClinVar: 82 Disease: | 386. SLC33A1 N solute carrier family 33 (acetyl-CoA transporter), member 1 Variants: 0(0) , HGMD: 6, ClinVar: 6 Disease: | 387. SLC35A1 N solute carrier family 35 (CMP-sialic acid transporter), member A1 Variants: 0(0) , HGMD: 2, ClinVar: 4 Disease: |
388. SLC35C1 N solute carrier family 35 (GDP-fucose transporter), member C1 Variants: 0(0) , HGMD: 7, ClinVar: 9 Disease: | 389. SLC3A1 N solute carrier family 3 (amino acid transporter heavy chain), member 1 Variants: 8(8) , HGMD: 125, ClinVar: 10 Disease: | 390. SLC6A8 N solute carrier family 6 (neurotransmitter transporter), member 8 Variants: 14(13) , HGMD: 106, ClinVar: 35 Disease: |
391. SLC7A13 N solute carrier family 7 (anionic amino acid transporter), member 13 Variants: 0(0) , HGMD: , ClinVar: 1 Disease: | 392. SLC7A9 N solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 Variants: 10(10) , HGMD: 99, ClinVar: 17 Disease: | 393. SOD1 N superoxide dismutase 1, soluble Variants: 0(0) , HGMD: 183, ClinVar: 36 Disease: |
394. SPAST N spastin Variants: 0(0) , HGMD: 411, ClinVar: 78 Disease: | 395. SPG11 N spastic paraplegia 11 (autosomal recessive) Variants: 0(0) , HGMD: 143, ClinVar: 140 Disease: | 396. SPG20 N spastic paraplegia 20 (Troyer syndrome) Variants: 0(0) , HGMD: 2, ClinVar: 9 Disease: |
397. SPG7 N spastic paraplegia 7 (pure and complicated autosomal recessive) Variants: 90(90) , HGMD: 78, ClinVar: 86 Disease: SPG7 | 398. SPTBN2 N spectrin, beta, non-erythrocytic 2 Variants: 0(0) , HGMD: 6, ClinVar: 20 Disease: | 399. STAR N steroidogenic acute regulatory protein Variants: 0(0) , HGMD: 60, ClinVar: 15 Disease: |
400. SUCLA2 N succinate-CoA ligase, ADP-forming, beta subunit Variants: 50(46) , HGMD: 11, ClinVar: 36 Disease: 612073 | 401. SUCLG1 N succinate-CoA ligase, alpha subunit Variants: 47(44) , HGMD: 13, ClinVar: 25 Disease: 245400 | 402. SUOX N sulfite oxidase Variants: 0(0) , HGMD: 22, ClinVar: 8 Disease: |
403. SURF1 N surfeit 1 Variants: 54(51) , HGMD: 92, ClinVar: 43 Disease: 220110 | 404. TACO1 N translational activator of mitochondrially encoded cytochrome c oxidase I Variants: 11(11) , HGMD: 1, ClinVar: 9 Disease: 220110 | 405. TARS2 N threonyl-tRNA synthetase 2, mitochondrial (putative) Variants: 5(3) , HGMD: 2, ClinVar: 2 Disease: 615918 |
406. TAT N tyrosine aminotransferase Variants: 0(0) , HGMD: 20, ClinVar: 2 Disease: | 407. TAZ N tafazzin Variants: 403(233) , HGMD: 113, ClinVar: 56 Disease: BTHS | 408. TIMM8A N translocase of inner mitochondrial membrane 8 homolog A (yeast) Variants: 16(13) , HGMD: 13, ClinVar: 16 Disease: MTS |
409. TK2 N thymidine kinase 2, mitochondrial Variants: 125(90) , HGMD: 39, ClinVar: 50 Disease: 617069, MTDPS2 | 410. TMEM126A N transmembrane protein 126A Variants: 1(1) , HGMD: 1, ClinVar: 11 Disease: | 411. TMEM126B N transmembrane protein 126B Variants: 4(4) , HGMD: , ClinVar: 0 Disease: 252010, 618250 |
412. TMEM70 N transmembrane protein 70 Variants: 63(61) , HGMD: 13, ClinVar: 23 Disease: 614052 | 413. TOP1MT N topoisomerase (DNA) I, mitochondrial Variants: 0(0) , HGMD: 1, ClinVar: 0 Disease: | 414. TPM2 N tropomyosin 2 (beta) Variants: 0(0) , HGMD: 36, ClinVar: 31 Disease: |
415. TPP1 N tripeptidyl peptidase I Variants: 0(0) , HGMD: 104, ClinVar: 115 Disease: | 416. TRMU N tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase Variants: 71(66) , HGMD: 15, ClinVar: 42 Disease: 580000, LFIT | 417. TSFM N Ts translation elongation factor, mitochondrial Variants: 34(33) , HGMD: 2, ClinVar: 11 Disease: COXPD3 |
418. TTBK2 N tau tubulin kinase 2 Variants: 0(0) , HGMD: 3, ClinVar: 5 Disease: | 419. TUFM N Tu translation elongation factor, mitochondrial Variants: 40(39) , HGMD: 3, ClinVar: 15 Disease: COXPD4 | 420. TYMP N thymidine phosphorylase Variants: 127(118) , HGMD: 83, ClinVar: 120 Disease: MTDPS1 |
421. UBE3A N ubiquitin protein ligase E3A Variants: 0(0) , HGMD: 70, ClinVar: 211 Disease: | 422. UCP1 N uncoupling protein 1 (mitochondrial, proton carrier) Variants: 0(0) , HGMD: 7, ClinVar: 1 Disease: 601665 | 423. UCP2 N uncoupling protein 2 (mitochondrial, proton carrier) Variants: 0(0) , HGMD: 7, ClinVar: 8 Disease: |
424. UCP3 N uncoupling protein 3 (mitochondrial, proton carrier) Variants: 0(0) , HGMD: 9, ClinVar: 4 Disease: 601665 | 425. UNG N uracil-DNA glycosylase Variants: 0(0) , HGMD: 6, ClinVar: 7 Disease: | 426. UQCR10 N ubiquinol-cytochrome c reductase, complex III subunit X Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
427. UQCR11 N ubiquinol-cytochrome c reductase, complex III subunit XI Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 428. UQCRB N ubiquinol-cytochrome c reductase binding protein Variants: 1(1) , HGMD: 1, ClinVar: 7 Disease: MC3DN1, MC3DN3 | 429. UQCRC1 N ubiquinol-cytochrome c reductase core protein I Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
430. UQCRC2 N ubiquinol-cytochrome c reductase core protein II Variants: 2(1) , HGMD: 1, ClinVar: 0 Disease: MC3DN5 | 431. UQCRFS1 N ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 Variants: 0(0) , HGMD: , ClinVar: 0 Disease: | 432. UQCRH N ubiquinol-cytochrome c reductase hinge protein Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
433. UQCRQ N ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa Variants: 31(30) , HGMD: 1, ClinVar: 7 Disease: MC3DN4 | 434. UROS N uroporphyrinogen III synthase Variants: 0(0) , HGMD: 43, ClinVar: 27 Disease: | 435. USMG5 N up-regulated during skeletal muscle growth 5 homolog (mouse) Variants: 0(0) , HGMD: , ClinVar: 0 Disease: |
436. VARS2 N valyl-tRNA synthetase 2, mitochondrial Variants: 13(10) , HGMD: 3, ClinVar: 3 Disease: 615917 | 437. WARS2 N tryptophanyl tRNA synthetase 2, mitochondrial Variants: 8(8) , HGMD: , ClinVar: 2 Disease: 617710 | 438. WFS1 N Wolfram syndrome 1 (wolframin) Variants: 18(18) , HGMD: 258, ClinVar: 263 Disease: NIDDM |
439. XDH N xanthine dehydrogenase Variants: 0(0) , HGMD: 25, ClinVar: 5 Disease: | 440. XPNPEP3 N X-prolyl aminopeptidase (aminopeptidase P) 3, putative Variants: 0(0) , HGMD: 2, ClinVar: 5 Disease: | 441. YARS2 N tyrosyl-tRNA synthetase 2, mitochondrial Variants: 65(60) , HGMD: 7, ClinVar: 23 Disease: MLASA2 |
442. ZFYVE26 N zinc finger, FYVE domain containing 26 Variants: 0(0) , HGMD: 28, ClinVar: 48 Disease: |