Mitochondria Phenome Knowledgebase

Phenotypic Feature Bone-diseases finds 54 Gene-Feature associations that are associated with 41 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADS 201470 Bone-diseases musculoskeletal #9932958 #11524729
ACSL4 300387 Bone-diseases musculoskeletal #11889465
AGXT 259900 Bone-diseases musculoskeletal #6829606 #11682674
AGXT 259900 Metabolic-bone-diseases osteopenia musculoskeletal 11682674
ALDH18A1 138250 Bone-diseases musculoskeletal #15517380
ALDH18A1 138250 Metabolic-bone-diseases osteopenic bones; osteopenic; osteopenia musculoskeletal 15517380
ALDH2 166710 Bone-diseases musculoskeletal #16520888
ALDH2 166710 Metabolic-bone-diseases bone mineral density reduced musculoskeletal 16520888
ATP7B 277900 Bone-diseases musculoskeletal #10790207 #15274886 #15368714 #15636319
ATP7B 277900 Metabolic-bone-diseases osteopenia; degenerative changes; osteophytes musculoskeletal #10790207 #15274886 #15368714 15636319
ATPAF2 604273 Bone-diseases musculoskeletal #14757859
AUH 250950 Bone-diseases musculoskeletal #9762598
COX10 220110 Metabolic-bone-diseases musculoskeletal #2834526
COX10 220110 Bone-diseases musculoskeletal #2834526
CYB5R3 250800 Bone-diseases musculoskeletal #10874300
CYBA 233690 Bone-diseases musculoskeletal #10759707 #10910929
CYBB 306400 Bone-diseases musculoskeletal #1974155 #12094329 #15082894 #15308575
CYP11B1 202010 Bone-diseases musculoskeletal #8506298 #8768848 #9302260 #9435454 #11095433 #15755848 #16030166
CYP27A1 213700 Bone-diseases musculoskeletal #8514861 #12000359 #14572142 #16278884
CYP27A1 213700 Metabolic-bone-diseases musculoskeletal #8514861 #12000359 #14572142 #16278884
CYP27B1 264700 Bone-diseases musculoskeletal #9415400 #9486994 #10566658 #12050193
CYP27B1 264700 Metabolic-bone-diseases osteopenia musculoskeletal 9415400 #9486994 #10566658 #12050193
DLAT 109720 Bone-diseases musculoskeletal #16177252
DLAT 109720 Metabolic-bone-diseases osteopenia; bone mineral density reduced musculoskeletal 16177252
DMPK 160900 Bone-diseases calcification of posterior longitudinal ligament; calcification of anterior longitudinal ligament; ossification of ligaments; calcifications; ossifications; bone abnormalities; cranium hyperostosis musculoskeletal 9402536
ETFDH 231680 Bone-diseases musculoskeletal #15669683
FH 605839 Bone-diseases musculoskeletal #15741255
FH 605839 Metabolic-bone-diseases osteopenia; bone mineral density abnormal; femoral neck musculoskeletal 15741255
FH 606812 Bone-diseases musculoskeletal #8200987
FXN 229300 Bone-diseases musculoskeletal #4673109 #9539351 #10533031 #10607838 #12480086 #12745158 #16344344
GCDH 231670 Bone-diseases musculoskeletal #12888985
GDAP1 214400 Bone-diseases musculoskeletal #11743579 #12707075 #16343542
GDAP1 607706 Bone-diseases musculoskeletal #12821518 #15019704
GK 307030 Bone-diseases bone dysplasia musculoskeletal 8651297 #11032329
GK 307030 Metabolic-bone-diseases musculoskeletal #11032329
HSD3B2 201810 Bone-diseases musculoskeletal #295036 #10843183 #12050213 #15585552
KIF1B 118210 Bone-diseases musculoskeletal #9409358 #11389829
MFN2 601152 Bone-diseases musculoskeletal #16437557
MFN2 609260 Bone-diseases musculoskeletal #16714318
MPV17 251880 Bone-diseases musculoskeletal #16582910
MPV17 256810 Bone-diseases musculoskeletal #185990
NDUFA12L 252010 Bone-diseases musculoskeletal #16200211
NDUFA12L 252010 Metabolic-bone-diseases musculoskeletal #16200211
NDUFS3 252010 Bone-diseases musculoskeletal #14729820
PDHA1 312170 Bone-diseases musculoskeletal #15384102
PDHA1 312170 Metabolic-bone-diseases osteopenia musculoskeletal 15384102
PEO1 271245 Bone-diseases musculoskeletal #8133312
PEO1 609286 Bone-diseases musculoskeletal #15258213
PEO1 609286 Metabolic-bone-diseases musculoskeletal #15258213
PUS1 600462 Bone-diseases musculoskeletal #7726239 #14981724 #15971356
RMRP 250250 Bone-diseases musculoskeletal #7897625 #7981754 #8444246 #11035826 #11043437 #11370774 #12888988 #14284412 #14569125 #14608646
RMRP 250460 Bone-diseases musculoskeletal #11940090
RMRP 607095 Bone-diseases musculoskeletal #8723091 #11370632 #16252239
SPAST 182601 Bone-diseases musculoskeletal #8931574 #10699187 #11015453 #11723204 #15667412
SPG7 607259 Bone-diseases musculoskeletal #9634528 #16534102
STAR 201710 Bone-diseases musculoskeletal #10323391
TAZ 302060 Bone-diseases musculoskeletal #15124852
TIMM8A 304700 Bone-diseases musculoskeletal #7643352 #11449109 #11601506 #13771732
TK2 609560 Bone-diseases musculoskeletal #12391347 #12682338
UROS 263700 Bone-diseases musculoskeletal #9092747 #12060112
WFS1 222300 Bone-diseases musculoskeletal #12707373

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