Mitochondria Phenome Knowledgebase

Phenotypic Feature Musculoskeletal-diseases finds 95 Gene-Feature associations that are associated with 95 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Musculoskeletal-diseases musculoskeletal #11118249
ACADL 201460 Musculoskeletal-diseases musculoskeletal #2000272
ACADM 201450 Musculoskeletal-diseases musculoskeletal #7876853 #11524729
ACADS 201470 Musculoskeletal-diseases musculoskeletal #3335634 #3571488 #9932958 #11524729 #15534767
ACADSB 610006 Musculoskeletal-diseases musculoskeletal #16317551
ACADVL 201475 Musculoskeletal-diseases musculoskeletal #7479827 #9546340 #9877038 #10910451 #11158518 #16443431
ACSL4 300387 Musculoskeletal-diseases musculoskeletal #11889465
AGXT 259900 Musculoskeletal-diseases bone deformities; skeletal abnormalities musculoskeletal #6829606 #9831280 11682674
ALDH18A1 138250 Musculoskeletal-diseases musculoskeletal #11092761 #15517380
ALDH2 166710 Musculoskeletal-diseases musculoskeletal #16520888
ALDH5A1 271980 Musculoskeletal-diseases musculoskeletal #9093300
ATP7B 277900 Musculoskeletal-diseases bone deformities; lower extremites musculoskeletal #3595645 #10790207 #10925743 15146013 #15274886 #15368714 #15636319
ATPAF2 604273 Musculoskeletal-diseases musculoskeletal #14757859
AUH 250950 Musculoskeletal-diseases musculoskeletal #9762598
BCKDHA 248600 Musculoskeletal-diseases musculoskeletal #7883996 #12042535 #16601891
BCS1L 124000 Musculoskeletal-diseases musculoskeletal #11528392
BCS1L 603358 Musculoskeletal-diseases musculoskeletal #7577396
CLN3 204200 Musculoskeletal-diseases musculoskeletal #15032383
COX10 220110 Musculoskeletal-diseases musculoskeletal #2834526
COX15 220110 Musculoskeletal-diseases musculoskeletal #12474143 #15235026
CPS1 237300 Musculoskeletal-diseases musculoskeletal #11301219
CPT1A 255120 Musculoskeletal-diseases musculoskeletal #11286380 #11350183 #16146704
CPT2 255110 Musculoskeletal-diseases musculoskeletal #2748260 #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096
CPT2 600649 Musculoskeletal-diseases musculoskeletal #11389301
CYB5R3 250800 Musculoskeletal-diseases musculoskeletal #7668255 #7718898 #9266404 #10874300
CYBA 233690 Musculoskeletal-diseases musculoskeletal #10759707 #10910929
CYBB 306400 Musculoskeletal-diseases musculoskeletal #1974155 #12094329 #15082894 #15308575
CYP11B1 202010 Musculoskeletal-diseases musculoskeletal #8506298 #8768848 #9302260 #9435454 #11095433 #15755848 #16030166
CYP27A1 213700 Musculoskeletal-diseases musculoskeletal #1763899 #3344851 #5676919 #7315872 #8514861 #9186905 #10775536 #11903362 #12000359 #14572142 #15147532 #16278884
CYP27B1 264700 Musculoskeletal-diseases leg bowing; skeletal deformities; genu varus; genu valgus; frontal bossing; rib cage deformities musculoskeletal 9415400 #9486994 9837822 10566658 12050193
DGUOK 251880 Musculoskeletal-diseases musculoskeletal #15883261 #16263314
DLAT 109720 Musculoskeletal-diseases musculoskeletal #16177252
DLAT 245348 Musculoskeletal-diseases musculoskeletal #2112155
DLD 248600 Musculoskeletal-diseases musculoskeletal #9540846 #9934985 #10448086 #12925875
DMPK 160900 Musculoskeletal-diseases musculoskeletal #8421476 #8742989 #9402536 #9521960 #9856556 #9863600 #10323316 #10391974 #10690232 #11407162 #11424841 #12601109 #14521021 #14726854 #15326270 #15770660
ECGF1 603041 Musculoskeletal-diseases musculoskeletal #9683610 #14720311 #15742109 #15781193 #16120316 #16198108 #16530527
ETFA 231680 Musculoskeletal-diseases musculoskeletal #16510302
ETFDH 231680 Musculoskeletal-diseases musculoskeletal #12815589 #15669683
FH 605839 Musculoskeletal-diseases musculoskeletal #15741255
FH 606812 Musculoskeletal-diseases musculoskeletal #8200987 #9635293 #16151915 #16156009
FXN 229300 Musculoskeletal-diseases musculoskeletal #4673109 #9539351 #10533031 #10607838 #12112211 #12480086 #12745158 #12878293 #16344344
GATM 602360 Musculoskeletal-diseases musculoskeletal #12468279
GCDH 231670 Musculoskeletal-diseases long bone deformity; contractures; dystonia related musculoskeletal #7564239 #9850748 #10407775 #10699052 #10960496 #11058907 #11174631 #11825066 12888985 #15985591 #16377226
GDAP1 214400 Musculoskeletal-diseases musculoskeletal #11743579 #12499475 #12707075 #15377708 #15944907 #16343542
GDAP1 607706 Musculoskeletal-diseases musculoskeletal #12821518 #15019704
GDAP1 608340 Musculoskeletal-diseases musculoskeletal #12566285
GFM1 609060 Musculoskeletal-diseases musculoskeletal #15537906
GK 307030 Musculoskeletal-diseases musculoskeletal #8651297 #11032329
GLDC 605899 Musculoskeletal-diseases musculoskeletal #10798358 #12402263
HADH 231530 Musculoskeletal-diseases musculoskeletal #10931422 #16176262
HADHA 609015 Musculoskeletal-diseases musculoskeletal #2019931 #7748366 #8865274 #9739053 #10352164 #11855930 #14630990 #15902556
HADHA 609016 Musculoskeletal-diseases musculoskeletal #9003853
HADHB 609015 Musculoskeletal-diseases musculoskeletal #9259266 #9305349 #12548384 #12754706 #15617873 #15902556 #16423905
HD 143100 Musculoskeletal-diseases musculoskeletal #9506560 #15526960
HLCS 253270 Musculoskeletal-diseases musculoskeletal #12855220
HMGCL 246450 Musculoskeletal-diseases musculoskeletal #9439591
HSD17B10 300438 Musculoskeletal-diseases musculoskeletal #14729408
HSD3B2 201810 Musculoskeletal-diseases musculoskeletal #295036 #10843183 #12050213 #15585552
KIF1B 118210 Musculoskeletal-diseases musculoskeletal #9409358 #11389829
MCCC1 210200 Musculoskeletal-diseases musculoskeletal #2738779
MCCC2 210210 Musculoskeletal-diseases musculoskeletal #8831079 #9537490 #11181649 #15877210
MFN2 601152 Musculoskeletal-diseases musculoskeletal #16437557
MFN2 609260 Musculoskeletal-diseases musculoskeletal #8406488 #10732809 #11148244 #12601114 #15136675 #15549395 #16043786 #16087932 #16714318
MLYCD 248360 Musculoskeletal-diseases musculoskeletal #12955715
MPV17 251880 Musculoskeletal-diseases musculoskeletal #16582910
MPV17 256810 Musculoskeletal-diseases musculoskeletal #185990
MTRR 236270 Musculoskeletal-diseases musculoskeletal #10484769 #15714522
MUT 251000 Musculoskeletal-diseases musculoskeletal #16186538
NDUFA12L 252010 Musculoskeletal-diseases musculoskeletal #16200211
NDUFS1 252010 Musculoskeletal-diseases musculoskeletal #11349233
NDUFS2 252010 Musculoskeletal-diseases musculoskeletal #11220739
NDUFS3 252010 Musculoskeletal-diseases musculoskeletal #14729820
NDUFS4 252010 Musculoskeletal-diseases musculoskeletal #10944442
NDUFV1 252010 Musculoskeletal-diseases musculoskeletal #10080174 #15576045
OAT 258870 Musculoskeletal-diseases musculoskeletal #4088625 #6786998 #8982944 #10354199 #12221166
OPA1 125250 Musculoskeletal-diseases musculoskeletal #6493699 #15531309
OPA3 165300 Musculoskeletal-diseases musculoskeletal #15342707
PANK2 234200 Musculoskeletal-diseases musculoskeletal #7503394 #15812126
PC 266150 Musculoskeletal-diseases musculoskeletal #10323732 #16278852
PCCA 606054 Musculoskeletal-diseases musculoskeletal #10780784
PDHA1 312170 Musculoskeletal-diseases musculoskeletal #9187674 #9686362 #10486093 #15384102 #16412675
PDHX 245349 Musculoskeletal-diseases musculoskeletal #9399911 #9501264 #14518830 #15303005
PEO1 271245 Musculoskeletal-diseases musculoskeletal #8133312 #9879682
PEO1 607459 Musculoskeletal-diseases musculoskeletal #15668446
PEO1 609286 Musculoskeletal-diseases musculoskeletal #1634620 #10522883 #12163192 #12921794 #15258213
POLG 157640 Musculoskeletal-diseases musculoskeletal #2067633
POLG 258450 Musculoskeletal-diseases musculoskeletal #15477547 #16621917 #16715201
POLG 607459 Musculoskeletal-diseases musculoskeletal #12565911
PPOX 176200 Musculoskeletal-diseases brachydactyly; clinodactyly; fixed flexion deformities; misshapen terminal phalanges; photo mutilation; finger shortening musculoskeletal 2317449 3319294 9540991 10870850 11298551 16433813
PUS1 600462 Musculoskeletal-diseases musculoskeletal #7726239 #14981724 #15971356
RMRP 250250 Musculoskeletal-diseases narrowing of interpediculate distances; flaring of lower rib cage; small pelvic inlet; shortened limbs; leg bowing; metaphyseal dysplasia; metaphyseal flaring; tibia shorter than fibula; short hands; brachycephaly; brachydactyly; genu varus; chest deformity; cartilage hypoplasia musculoskeletal #7897625 #7981754 8444246 10064668 11035826 #11043437 #11207361 #11370774 12888988 14284412 14569125 14608646
RMRP 250460 Musculoskeletal-diseases mild platyspondyly; harrisons groves; flaring of lower rib cage; short hands; brachydactyly; leg bowing; cone shaped epiphyses musculoskeletal 11940090
RMRP 607095 Musculoskeletal-diseases hypertelorism; eyes; J shaped sella; platyspondyly; rhizomelic shortening; metaphyseal flaring; small epiphyses; brachydactyly; delayed carpal bone age; cervical cord compression musculoskeletal 8723091 11370632 16252239
SCO2 604377 Musculoskeletal-diseases musculoskeletal #10545952 #10749987 #11673586 #15210538 #15499950
SDHA 252011 Musculoskeletal-diseases contractures musculoskeletal #10976639 #12112045 16361598
SLC25A19 607196 Musculoskeletal-diseases musculoskeletal #12185364 #12376931
SLC25A20 212138 Musculoskeletal-diseases musculoskeletal #9686371 #10876004 #11350184 #12890396 #15057979 #15159657
SLC25A22 609304 Musculoskeletal-diseases musculoskeletal #15592994
SLC25A4 609283 Musculoskeletal-diseases musculoskeletal #10364542 #12565915 #16155110
SPAST 182601 Musculoskeletal-diseases musculoskeletal #8931574 #10699187 #11015453 #11134375 #11723204 #11843700 #15197701 #15667412
SPG7 607259 Musculoskeletal-diseases musculoskeletal #9634528 #11222789 #14985266 #16534102
STAR 201710 Musculoskeletal-diseases musculoskeletal #10323391 #15546900
SUCLA2 609560 Musculoskeletal-diseases musculoskeletal #15877282
SUOX 272300 Musculoskeletal-diseases musculoskeletal #11825068 #12001203 #12368985 #15952210 #16140720
SURF1 220110 Musculoskeletal-diseases musculoskeletal #16225813
TAZ 300069 Musculoskeletal-diseases musculoskeletal #7616547 #9382096
TAZ 302060 Musculoskeletal-diseases musculoskeletal #8630491 #8739954 #9382096 #10484795 #14654353 #15098233 #15124852 #16235007
TIMM8A 304700 Musculoskeletal-diseases musculoskeletal #7643352 #10878669 #11449109 #11601506 #13771732
TK2 609560 Musculoskeletal-diseases musculoskeletal #2538042 #11687801 #12269728 #12391347 #12682338 #16504786
UROS 263700 Musculoskeletal-diseases severe bone loss; contractures; bone resorption; deformities musculoskeletal 9092747 12060112 15304101
WFS1 222300 Musculoskeletal-diseases musculoskeletal #12707373

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