rs772037717, FBXL4

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
CUI: C3809592
Disease: FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
52 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.800 1.000 4 2013 2019
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
Mild dysmorphic features
CUI: C2749190
Disease: Mild dysmorphic features
1 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016