Mitochondria Phenome Knowledgebase

Phenotypic Feature Foot-deformities finds 20 Gene-Feature associations that are associated with 20 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ALDH18A1 138250 Foot-deformities pes planus; due to joint laxity musculoskeletal 15517380
CYP27A1 213700 Foot-deformities pes cavus; ankle deformities musculoskeletal 3344851 7315872 8514861 9186905 15147532
DMPK 160900 Foot-deformities talipes; talipes equinovarus; foot deformities; contractures; high arched palate musculoskeletal 9521960 9863600 11407162 15326270 15770660
ECGF1 603041 Foot-deformities pes cavus musculoskeletal 15742109 15781193 16530527
FH 606812 Foot-deformities equinovarus deformation; foot deformations musculoskeletal 8200987
FXN 229300 Foot-deformities pes cavus; foot deformities; high arched feet; skeletal deformities; pes equinovarus; toe clawing; chest deformity musculoskeletal 4673109 10533031 10607838 12112211 12745158 12878293 16344344
GDAP1 214400 Foot-deformities hand deformities; claw hands; foot deformities; varus deformation; pes varus; genu recurvatum; hammertoes; pes plano valgus; pes cavus musculoskeletal 11743579 12499475 12707075 15377708 15944907 16343542
GDAP1 607706 Foot-deformities contractures; pes cavus; claw hands; chest deformities musculoskeletal 12821518 15019704
GDAP1 608340 Foot-deformities pes equinovarus; pes cavus; claw hands; clubfoot deformity musculoskeletal 12566285
HADHA 609015 Foot-deformities foot deformities; contractures; achilles tendon contractures musculoskeletal 2019931 9739053
KIF1B 118210 Foot-deformities hammer toes; pes cavus musculoskeletal 9409358 11389829
MFN2 601152 Foot-deformities foot deformities; pes cavus; contractures musculoskeletal 16437557
MFN2 609260 Foot-deformities hammer toes; pes cavus; pes planus musculoskeletal 8406488 10732809 11148244 12601114 15136675 15549395 16043786 16087932 16714318
OPA3 165300 Foot-deformities pes cavus; bilateral musculoskeletal 15342707
PANK2 234200 Foot-deformities achilles tendon contractures; contractures; foot deformities musculoskeletal 15812126
PEO1 271245 Foot-deformities pes planus; pes cavus; planovalgus musculoskeletal 8133312 9879682
POLG 258450 Foot-deformities pes cavus musculoskeletal 15477547 16715201
POLG 607459 Foot-deformities pes cavus; pes plano valgus musculoskeletal 12565911
SLC25A4 609283 Foot-deformities contractures; achilles tendon contractures; mild; high arched feet; hammer shaped toes musculoskeletal 16155110
SPAST 182601 Foot-deformities pes cavus; pes planus; foot deformities; footdrop musculoskeletal 8931574 10699187 11015453 11134375 11843700 15197701
SPG7 607259 Foot-deformities pes cavus musculoskeletal 9634528 11222789 14985266 16534102
STAR 201710 Foot-deformities talipes; talipes equinovarus musculoskeletal 15546900
TAZ 300069 Foot-deformities talipes equinovarus musculoskeletal 7616547 9382096
TAZ 302060 Foot-deformities bilateral talipes musculoskeletal 15098233
TK2 609560 Foot-deformities scapular winging; equinus deformities musculoskeletal 12682338

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