Mitochondria Phenome Knowledgebase

Phenotypic Feature Spinal-diseases finds 25 Gene-Feature associations that are associated with 25 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADS 201470 Spinal-diseases scoliosis; lumbar lordosis musculoskeletal 9932958 11524729
ACSL4 300387 Spinal-diseases kyphosis; scoliosis musculoskeletal 11889465
ATP7B 277900 Spinal-diseases spine osteochondritis musculoskeletal 15274886
ATPAF2 604273 Spinal-diseases kyphoscoliosis musculoskeletal 14757859
AUH 250950 Spinal-diseases scoliosis musculoskeletal 9762598
CYB5R3 250800 Spinal-diseases scoliosis musculoskeletal 10874300
CYP27B1 264700 Spinal-diseases kyphosis musculoskeletal 10566658
ETFDH 231680 Spinal-diseases scoliosis musculoskeletal 15669683
FH 606812 Spinal-diseases kyphosis; major musculoskeletal 8200987
FXN 229300 Spinal-diseases scoliosis; kyphoscoliosis; thoracic scoliosis; spine deviated; spinal scoliosis on the thoracic spine musculoskeletal 4673109 9539351 10533031 10607838 12480086 12745158 16344344
GCDH 231670 Spinal-diseases scoliosis; dystonia related musculoskeletal 12888985
GDAP1 214400 Spinal-diseases scoliosis; kyphosis; kyphoscoliosis musculoskeletal 11743579 12707075 16343542
GDAP1 607706 Spinal-diseases spinal deformities; scoliosis musculoskeletal 12821518 15019704
KIF1B 118210 Spinal-diseases lordosis; mild musculoskeletal 9409358 11389829
MFN2 601152 Spinal-diseases scoliosis; lumbar hyperlordosis musculoskeletal 16437557
MFN2 609260 Spinal-diseases scoliosis musculoskeletal 16714318
MPV17 251880 Spinal-diseases neurogenic kyphoscoliosis; kyphosis; scoliosis musculoskeletal 16582910
NDUFA12L 252010 Spinal-diseases scoliosis musculoskeletal 16200211
NDUFS3 252010 Spinal-diseases kyphoscoliosis musculoskeletal 14729820
PEO1 271245 Spinal-diseases scoliosis; thoracic scoliosis musculoskeletal 8133312
PUS1 600462 Spinal-diseases scoliosis; kyphosis musculoskeletal 7726239 14981724 15971356
RMRP 250250 Spinal-diseases lumbar lordosis; scoliosis; lower back pain musculoskeletal 8444246 14569125 14608646
RMRP 250460 Spinal-diseases lumbar lordosis musculoskeletal 11940090
RMRP 607095 Spinal-diseases hyperlordosis; kyphosis musculoskeletal 8723091 11370632 16252239
SPAST 182601 Spinal-diseases scoliosis; lower back pain; lumbar lordosis musculoskeletal 8931574 10699187 11015453 11723204 15667412
SPG7 607259 Spinal-diseases scoliosis musculoskeletal 9634528 16534102
TIMM8A 304700 Spinal-diseases scoliosis musculoskeletal 11601506
TK2 609560 Spinal-diseases kyphoscoliosis; lumbar lordosis; scoliosis musculoskeletal 12391347 12682338
WFS1 222300 Spinal-diseases scoliosis musculoskeletal 12707373

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