rs267607261, MPV17

N. diseases: 28
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NAVAJO NEUROHEPATOPATHY
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
0.700 GeneticVariation CLINVAR Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. 17694548 2007
Tinnitus
CUI: C0040264
Disease: Tinnitus
0.700 CausalMutation CLINVAR
Skeletal muscle atrophy
CUI: C0541794
Disease: Skeletal muscle atrophy
0.700 CausalMutation CLINVAR
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
0.700 CausalMutation CLINVAR
Headache
CUI: C0018681
Disease: Headache
0.700 CausalMutation CLINVAR
Hypesthesia
CUI: C0020580
Disease: Hypesthesia
0.700 CausalMutation CLINVAR
Distal upper limb muscle weakness
CUI: C3150620
Disease: Distal upper limb muscle weakness
0.700 CausalMutation CLINVAR
Difficulty standing
CUI: C0241237
Disease: Difficulty standing
0.700 CausalMutation CLINVAR
NAVAJO NEUROHEPATOPATHY
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
0.700 CausalMutation CLINVAR
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
0.700 CausalMutation CLINVAR
Spasm
CUI: C0037763
Disease: Spasm
0.700 CausalMutation CLINVAR
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 CausalMutation CLINVAR
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR
Anisocoria
CUI: C0003079
Disease: Anisocoria
0.700 CausalMutation CLINVAR
Gait, Drop Foot
CUI: C0427149
Disease: Gait, Drop Foot
0.700 CausalMutation CLINVAR
Distal lower limb muscle weakness
CUI: C1836450
Disease: Distal lower limb muscle weakness
0.700 CausalMutation CLINVAR
Decreased vibratory sense
CUI: C1295585
Disease: Decreased vibratory sense
0.700 CausalMutation CLINVAR
Photophobia
CUI: C0085636
Disease: Photophobia
0.700 CausalMutation CLINVAR
Absent reflex
CUI: C0234146
Disease: Absent reflex
0.700 CausalMutation CLINVAR
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.700 CausalMutation CLINVAR
Distal lower limb amyotrophy
CUI: C1836451
Disease: Distal lower limb amyotrophy
0.700 CausalMutation CLINVAR
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
0.700 CausalMutation CLINVAR
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
0.700 CausalMutation CLINVAR
Pain in limb
CUI: C0030196
Disease: Pain in limb
0.700 CausalMutation CLINVAR