Mitochondria Phenome Knowledgebase

Phenotypic Feature Craniofacial-abnormalities finds 46 Gene-Feature associations that are associated with 46 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Craniofacial-abnormalities musculoskeletal #2000272
ACADS 201470 Craniofacial-abnormalities musculoskeletal #3335634 #3571488
ACADSB 610006 Craniofacial-abnormalities musculoskeletal #16317551
ACSL4 300387 Craniofacial-abnormalities musculoskeletal #11889465
ALDH5A1 271980 Craniofacial-abnormalities musculoskeletal #9093300
ATPAF2 604273 Craniofacial-abnormalities musculoskeletal #14757859
AUH 250950 Craniofacial-abnormalities musculoskeletal #9762598
BCKDHA 248600 Craniofacial-abnormalities musculoskeletal #7883996 #12042535 #16601891
BCS1L 124000 Craniofacial-abnormalities musculoskeletal #11528392
BCS1L 603358 Craniofacial-abnormalities musculoskeletal #7577396
CLN3 204200 Craniofacial-abnormalities musculoskeletal #15032383
COX15 220110 Craniofacial-abnormalities musculoskeletal #12474143 #15235026
CPS1 237300 Craniofacial-abnormalities musculoskeletal #11301219
CYB5R3 250800 Craniofacial-abnormalities musculoskeletal #7668255 #7718898 #9266404 #10874300
DGUOK 251880 Craniofacial-abnormalities musculoskeletal #15883261 #16263314
DLAT 245348 Craniofacial-abnormalities musculoskeletal #2112155
DLD 248600 Craniofacial-abnormalities musculoskeletal #9540846 #10448086 #12925875
DMPK 160900 Craniofacial-abnormalities musculoskeletal #9521960
ETFDH 231680 Craniofacial-abnormalities musculoskeletal #12815589
FH 606812 Craniofacial-abnormalities musculoskeletal #8200987 #9635293 #16151915 #16156009
GATM 602360 Craniofacial-abnormalities musculoskeletal #12468279
GCDH 231670 Craniofacial-abnormalities musculoskeletal #7564239 #9850748 #10407775 #10699052 #10960496 #11058907 #11174631 #11825066 #12888985 #15985591 #16377226
GFM1 609060 Craniofacial-abnormalities musculoskeletal #15537906
GLDC 605899 Craniofacial-abnormalities musculoskeletal #12402263
HADHA 609016 Craniofacial-abnormalities musculoskeletal #9003853
HLCS 253270 Craniofacial-abnormalities musculoskeletal #12855220
HMGCL 246450 Craniofacial-abnormalities musculoskeletal #9439591
HSD17B10 300438 Craniofacial-abnormalities musculoskeletal #14729408
MCCC1 210200 Craniofacial-abnormalities musculoskeletal #2738779
MCCC2 210210 Craniofacial-abnormalities musculoskeletal #8831079 #9537490 #11181649 #15877210
MLYCD 248360 Craniofacial-abnormalities musculoskeletal #12955715
MTRR 236270 Craniofacial-abnormalities musculoskeletal #10484769 #15714522
MUT 251000 Craniofacial-abnormalities musculoskeletal #16186538
NDUFS1 252010 Craniofacial-abnormalities musculoskeletal #11349233
NDUFS4 252010 Craniofacial-abnormalities musculoskeletal #10944442
NDUFV1 252010 Craniofacial-abnormalities musculoskeletal #10080174 #15576045
PC 266150 Craniofacial-abnormalities musculoskeletal #10323732 #16278852
PCCA 606054 Craniofacial-abnormalities musculoskeletal #10780784
PDHA1 312170 Craniofacial-abnormalities musculoskeletal #9187674 #9686362 #10486093 #15384102 #16412675
PDHX 245349 Craniofacial-abnormalities musculoskeletal #9399911 #9501264 #15303005
PUS1 600462 Craniofacial-abnormalities musculoskeletal #7726239 #15971356
SCO2 604377 Craniofacial-abnormalities musculoskeletal #15499950
SLC25A19 607196 Craniofacial-abnormalities musculoskeletal #12185364 #12376931
SLC25A20 212138 Craniofacial-abnormalities musculoskeletal #10876004 #15057979
SLC25A22 609304 Craniofacial-abnormalities musculoskeletal #15592994
SUOX 272300 Craniofacial-abnormalities musculoskeletal #11825068 #12001203 #12368985 #15952210 #16140720
SURF1 220110 Craniofacial-abnormalities musculoskeletal #16225813

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