Combined oxidative phosphorylation deficiency

Disease Term Disease ID Gene Symbol Classification References Source
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
616239OMIM:616239
NARS2 Unknown — CTD HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
616430OMIM:616430
MARS2 Unknown — CTD HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
616672OMIM:616672
CARS2 Unknown — CTD HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
616794MONDO:0014775OMIM:616794
SLC25A26 Causal — CTD ClinVar GenCC HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
616811MONDO:0014781OMIM:616811
TXN2 Causal
12529397 18164269 26626369
CTD ClinVar GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
C1864840610505MESH:C566467
AVIL Unknown — Disgenet
TSFM Unknown — CTD Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
616974OMIM:616974
TRMT10C Unknown — CTD HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
617228C4310661OMIM:617228
MIPEP Unknown — CTD Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
617664C4540029MONDO:0054654
MRPS34 Causal
28777931
ClinVar Disgenet GWAS catalog HPO
EME2 Unknown — Disgenet
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
617713C4540209MONDO:0054677
C1QBP Causal
28498888 28942965
ClinVar Disgenet GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
617872MONDO:0054741
MRPS7 Unknown
25556185 36421788
ClinVar GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
617873C4693466MONDO:0054742
TRIT1 Causal
1914216 24901367 28185376 31140736
ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36
617950C4693722MONDO:0054781
MRPS2 Causal — ClinVar Disgenet GenCC HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37
618329C5193031MONDO:0032679
MICOS13 Causal — ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38
618378C5193064MONDO:0032712
MRPS14 Causal
30358850
ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
618397MONDO:0032726
GFM2 Causal — ClinVar GenCC HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
610678C1857682MESH:C565690
TUFM Unknown — CTD Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40
618835MONDO:0030006
QRSL1 Causal
26741492 29440775 30283131 35894854
ClinVar GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41
618838C5394236MONDO:0030007
GATB Causal — ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42
618839C5394237MONDO:0030008
GATC Causal
30283131
ClinVar Disgenet GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43
618851C5394284MONDO:0030017
TIMM22 Causal — ClinVar Disgenet GenCC HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44
618855C5394293MONDO:0030020
FASTKD2 Causal
18771761 25497598 26370583
ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45
618951C5436461MONDO:0033533
MRPL12 Causal
23603806
ClinVar Disgenet GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46
618952C5436466MONDO:0033534
MRPS23 Causal
26741492
ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
618958C5436476MONDO:0033537
MRPS28 Causal — ClinVar Disgenet GenCC HPO
TPD52-MRPS28 Unknown — Disgenet
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48
619012C5436602MONDO:0033566
NSUN3 Causal
27356879 32488845
ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49
619024C5436616MONDO:0033569
MIEF2 Causal
25058219 29361167
ClinVar Disgenet GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
611719C2673642MESH:C567126
MRPS22 Unknown — CTD Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50
619025C5436623MONDO:0033570
MRPS25 Causal
31039582
ClinVar Disgenet GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51
619057C5436703MONDO:0033631
PTCD3 Causal
30607703 35094435 36450274
ClinVar Disgenet GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52
619386C5543592MONDO:0030311
NFS1 Unknown
16787928 16847322 24498631 33457206
ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53
619423C5543631MONDO:0030378
C2ORF69 Causal
33945503 34038740
CTD ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54
619737C5676912MONDO:0030543
PRORP Causal — ClinVar Disgenet GenCC HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
619743C5676915MONDO:0859228
POLRMT Causal
30315573 33602924
ClinVar Disgenet HPO Orphanet
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56
620139C5774261MONDO:0859323
TAMM41 Causal
35321494
ClinVar Disgenet GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
620167C5774275MONDO:0859337
CRLS1 Causal
35147173
ClinVar Disgenet GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
620451C5830641MONDO:0957537
TEFM Unknown
36823193
ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59
620646C5882730MONDO:0957992
MRPL39 Causal — ClinVar Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
300816C3151753OMIM:300816
AIFM1 Unknown — CTD Disgenet HPO
RAB33A Unknown — Disgenet
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60
621195
MRPL49 Unknown — ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
C3150801613559OMIM:613559
MPHOSPH9 Unknown — Disgenet
MTRFR Unknown — CTD Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
614096OMIM:614096
AARS2 Unknown — CTD HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
614582OMIM:614582
MRPL3 Unknown — CTD HPO