Human | FBXO32 | 114907 | F-box protein 32 | INFERRED, Score=800, UMLKSK CUI: C0333641 |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | INFERRED, Score=800, UMLKSK CUI: C0333641 |
Human | TRIM63 | 84676 | tripartite motif containing 63, E3 ubiquitin protein ligase | INFERRED, Score=800, UMLKSK CUI: C0333641 |
Human | FAM126A | 84668 | family with sequence similarity 126, member A | Cerebral white matter atrophy, progressive |
Human | SPG11 | 80208 | spastic paraplegia 11 (autosomal recessive) | INFERRED, Score=800, UMLKSK CUI: C0333641 |
Human | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Atrophy of the corpus callosum |
Human | C20orf7 | 79133 | | INFERRED, Score=800, UMLKSK CUI: C0333641 |
Human | MTMR14 | 64419 | myotubularin related protein 14 | Atrophy predominantly of type I muscle fibers, with central nuclei and pale central zones with variably staining granules |
Human | SIL1 | 64374 | SIL1 nucleotide exchange factor | INFERRED, Score=800, UMLKSK CUI: C0333641 |
Human | MCCC2 | 64087 | methylcrotonoyl-CoA carboxylase 2 (beta) | |
Human | ALS2 | 57679 | amyotrophic lateral sclerosis 2 (juvenile) | Lateral corticospinal tracts show atrophy, pallor, and degeneration MRI shows atrophy of the motor cortex in older patients Muscle biopsy shows neurogenic atrophy |
Human | PLEKHG5 | 57449 | pleckstrin homology domain containing, family G (with RhoGef domain) member 5 | Distal muscle weakness and atrophy due to motor neuronopathy |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | Atrophic and degenerative changes in the spinal cord |
Human | PDE11A | 50940 | phosphodiesterase 11A | Adrenal glands may be normal, atrophic, or slightly enlarged |
Human | PSAT1 | 29968 | phosphoserine aminotransferase 1 | Brain imaging shows generalized atrophy |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | INFERRED, Score=800, UMLKSK CUI: C0333641 |
Human | BSCL2 | 26580 | Berardinelli-Seip congenital lipodystrophy 2 (seipin) | Upper limb weakness and atrophy predominates |
Human | HSPB8 | 26353 | heat shock 22kDa protein 8 | Progression to paralysis and atrophy of distal lower limb muscles |
Human | SACS | 26278 | spastic ataxia of Charlevoix-Saguenay (sacsin) | INFERRED, Score=800, UMLKSK CUI: C0333641 |
Human | ATP13A2 | 23400 | ATPase type 13A2 | Generalized cerebral, cerebellar, and brainstem atrophy, progressive |
Human | VPS13A | 23230 | vacuolar protein sorting 13 homolog A (S. cerevisiae) | INFERRED, Score=800, UMLKSK CUI: C0333641 |
Human | KIF1B | 23095 | kinesin family member 1B | Axonal atrophy on nerve biopsy |
Human | SETX | 23064 | senataxin | Atrophy of distal muscles |
Human | CCT5 | 22948 | chaperonin containing TCP1, subunit 5 (epsilon) | MRI shows atrophy of the spinal cord |
Human | TREX1 | 11277 | three prime repair exonuclease 1 | Healed areas are atrophic and hypopigmented |