Mitochondria Phenome Knowledgebase

Phenotypic Feature Microcephaly finds 39 Gene-Feature associations that are associated with 39 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Microcephaly musculoskeletal 2000272
ACADS 201470 Microcephaly musculoskeletal 3335634 3571488
ACADSB 610006 Microcephaly musculoskeletal 16317551
ACSL4 300387 Microcephaly head circumference decreased musculoskeletal 11889465
ALDH5A1 271980 Microcephaly musculoskeletal 9093300
ATPAF2 604273 Microcephaly musculoskeletal 14757859
AUH 250950 Microcephaly musculoskeletal 9762598
BCKDHA 248600 Microcephaly poor head growth musculoskeletal 7883996 12042535 16601891
BCS1L 124000 Microcephaly musculoskeletal 11528392
BCS1L 603358 Microcephaly musculoskeletal 7577396
CLN3 204200 Microcephaly microcephalic musculoskeletal 15032383
COX15 220110 Microcephaly progressive musculoskeletal 12474143 15235026
CPS1 237300 Microcephaly musculoskeletal 11301219
CYB5R3 250800 Microcephaly severe musculoskeletal 7668255 7718898 9266404 10874300
DGUOK 251880 Microcephaly musculoskeletal 15883261 16263314
DLAT 245348 Microcephaly microcephalic musculoskeletal 2112155
DLD 248600 Microcephaly microcephalic musculoskeletal 9540846 10448086 12925875
FH 606812 Microcephaly progressive musculoskeletal 8200987 9635293 16151915 16156009
GATM 602360 Microcephaly mild musculoskeletal 12468279
GFM1 609060 Microcephaly mild musculoskeletal 15537906
GLDC 605899 Microcephaly musculoskeletal 12402263
HADHA 609016 Microcephaly musculoskeletal 9003853
HLCS 253270 Microcephaly musculoskeletal 12855220
HSD17B10 300438 Microcephaly musculoskeletal 14729408
MCCC2 210210 Microcephaly musculoskeletal 8831079 9537490 11181649
MTRR 236270 Microcephaly musculoskeletal 10484769 15714522
MUT 251000 Microcephaly musculoskeletal 16186538
NDUFS1 252010 Microcephaly microcephalia musculoskeletal 11349233
NDUFS4 252010 Microcephaly musculoskeletal 10944442
PC 266150 Microcephaly musculoskeletal 10323732
PCCA 606054 Microcephaly at birth musculoskeletal 10780784
PDHA1 312170 Microcephaly musculoskeletal 9187674 9686362 10486093 15384102 16412675
PDHX 245349 Microcephaly musculoskeletal 9399911 9501264 15303005
PUS1 600462 Microcephaly musculoskeletal 7726239 15971356
SCO2 604377 Microcephaly musculoskeletal 15499950
SLC25A19 607196 Microcephaly congenital musculoskeletal 12185364 12376931
SLC25A20 212138 Microcephaly progressive; relative microcephaly musculoskeletal 10876004 15057979
SLC25A22 609304 Microcephaly progressive musculoskeletal 15592994
SUOX 272300 Microcephaly progressive musculoskeletal 11825068 12001203 12368985 15952210 16140720
SURF1 220110 Microcephaly musculoskeletal 16225813

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