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: |
