rs1555575860, COG4

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SAUL-WILSON SYNDROME
CUI: C1300285
Disease: SAUL-WILSON SYNDROME
0.800 GeneticVariation UNIPROT A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. 30290151 2018
SAUL-WILSON SYNDROME
CUI: C1300285
Disease: SAUL-WILSON SYNDROME
0.800 CausalMutation CLINVAR A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. 30290151 2018
SAUL-WILSON SYNDROME
CUI: C1300285
Disease: SAUL-WILSON SYNDROME
0.800 CausalMutation CLINVAR
Apraxias
CUI: C0003635
Disease: Apraxias
0.700 CausalMutation CLINVAR
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
0.700 CausalMutation CLINVAR
Dilated vestibule of the inner ear
CUI: C4023387
Disease: Dilated vestibule of the inner ear
0.700 CausalMutation CLINVAR
Premature Birth
CUI: C0151526
Disease: Premature Birth
0.700 CausalMutation CLINVAR
Prominent scalp veins
CUI: C1856542
Disease: Prominent scalp veins
0.700 CausalMutation CLINVAR
Poor suck
CUI: C1837142
Disease: Poor suck
0.700 CausalMutation CLINVAR
Congenital bilateral ptosis
CUI: C1836264
Disease: Congenital bilateral ptosis
0.700 CausalMutation CLINVAR
Bilateral talipes equinovarus
CUI: C1837835
Disease: Bilateral talipes equinovarus
0.700 CausalMutation CLINVAR
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
0.700 CausalMutation CLINVAR
Short distal phalanx of finger
CUI: C1839829
Disease: Short distal phalanx of finger
0.700 CausalMutation CLINVAR
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
0.700 CausalMutation CLINVAR
CATARACT 5, MULTIPLE TYPES
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
0.700 CausalMutation CLINVAR
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Enlarged semicircular canal
CUI: C4021156
Disease: Enlarged semicircular canal
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
0.700 CausalMutation CLINVAR
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
0.700 CausalMutation CLINVAR
Blue sclera
CUI: C0542514
Disease: Blue sclera
0.700 CausalMutation CLINVAR
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
0.700 CausalMutation CLINVAR
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
CUI: C3150736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
0.700 CausalMutation CLINVAR
Abnormal cochlea morphology
CUI: C4025858
Disease: Abnormal cochlea morphology
0.700 CausalMutation CLINVAR