rs1559931177, QRICH1

N. diseases: 34
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
0.700 CausalMutation CLINVAR
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
0.700 CausalMutation CLINVAR
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
0.700 CausalMutation CLINVAR
Decreased vibratory sense
CUI: C1295585
Disease: Decreased vibratory sense
0.700 CausalMutation CLINVAR
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
0.700 CausalMutation CLINVAR
VERVERI-BRADY SYNDROME
CUI: C4693824
Disease: VERVERI-BRADY SYNDROME
0.700 CausalMutation CLINVAR
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
0.700 CausalMutation CLINVAR
Progressive inability to walk
CUI: C1836843
Disease: Progressive inability to walk
0.700 CausalMutation CLINVAR
Bradycardia
CUI: C0428977
Disease: Bradycardia
0.700 CausalMutation CLINVAR
Intermittent painful muscle spasms
CUI: C4023104
Disease: Intermittent painful muscle spasms
0.700 CausalMutation CLINVAR
Motor delay
CUI: C1854301
Disease: Motor delay
0.700 CausalMutation CLINVAR
Nasal, dysarthic speech
CUI: C1834664
Disease: Nasal, dysarthic speech
0.700 CausalMutation CLINVAR
Waddling gait
CUI: C0231712
Disease: Waddling gait
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
Mitochondrial respiratory chain defects
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
0.700 CausalMutation CLINVAR
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
0.700 CausalMutation CLINVAR
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR
Restrictive ventilatory defect
CUI: C3277226
Disease: Restrictive ventilatory defect
0.700 CausalMutation CLINVAR
Temperature instability
CUI: C1820737
Disease: Temperature instability
0.700 CausalMutation CLINVAR
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.700 CausalMutation CLINVAR
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
0.700 CausalMutation CLINVAR
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Developmental stagnation
CUI: C1848980
Disease: Developmental stagnation
0.700 CausalMutation CLINVAR