ELOVL4, ELOVL fatty acid elongase 4, 6785

N. diseases: 111; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777598
rs587777598 		0.851 0.200 6 79921662 missense variant C/G;T snv
CUI: C1851481
Disease: Erythrokeratodermia with ataxia
Erythrokeratodermia with ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases 0.810 1.000 2 2014 2015
dbSNP: rs76567515
rs76567515 		6 79929310 intron variant C/T snv 0.14
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs104893946
rs104893946 		1.000 0.040 6 79916743 stop gained G/C snv
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		Eye Diseases 0.700 0
dbSNP: rs1131690770
rs1131690770 		1.000 0.040 6 79916759 frameshift variant TTAAG/- delins
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		Eye Diseases 0.700 0
dbSNP: rs1131690772
rs1131690772 		1.000 6 79916863 frameshift variant A/- delins
CUI: C3280856
Disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 		0.700 0
dbSNP: rs1131692036
rs1131692036 		0.925 0.160 6 79916817 missense variant A/C snv
CUI: C1851481
Disease: Erythrokeratodermia with ataxia
Erythrokeratodermia with ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554162301
rs1554162301 		1.000 0.160 6 79921654 missense variant A/G snv
CUI: C1851481
Disease: Erythrokeratodermia with ataxia
Erythrokeratodermia with ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554162524
rs1554162524 		0.882 0.160 6 79925034 splice acceptor variant T/C snv
CUI: C3280856
Disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 		0.700 0
dbSNP: rs1554162524
rs1554162524 		0.882 0.160 6 79925034 splice acceptor variant T/C snv
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.700 0
dbSNP: rs1554162524
rs1554162524 		0.882 0.160 6 79925034 splice acceptor variant T/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554162524
rs1554162524 		0.882 0.160 6 79925034 splice acceptor variant T/C snv
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1561982219
rs1561982219 		1.000 6 79916884 splice acceptor variant C/T snv
CUI: C3280856
Disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 		0.700 0
dbSNP: rs387906916
rs387906916 		1.000 6 79919443 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C3280856
Disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 		0.700 0
dbSNP: rs587776613
rs587776613 		1.000 0.040 6 79916760 frameshift variant AGTTA/GTT delins
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		Eye Diseases 0.700 0
dbSNP: rs746047636
rs746047636 		1.000 6 79926267 frameshift variant G/- delins 1.2E-05 7.0E-06
CUI: C3280856
Disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 		0.700 0
dbSNP: rs3812153
rs3812153 		0.925 0.040 6 79916658 missense variant T/C snv 0.17 0.16
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2005 2006
dbSNP: rs1131692036
rs1131692036 		0.925 0.160 6 79916817 missense variant A/C snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 1.000 1 2019 2019
dbSNP: rs240307
rs240307 		1.000 6 79947515 5 prime UTR variant G/A;C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.010 1.000 1 2018 2018
dbSNP: rs3812153
rs3812153 		0.925 0.040 6 79916658 missense variant T/C snv 0.17 0.16
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2006 2006
dbSNP: rs587777598
rs587777598 		0.851 0.200 6 79921662 missense variant C/G;T snv
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs587777598
rs587777598 		0.851 0.200 6 79921662 missense variant C/G;T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 1.000 1 2019 2019
dbSNP: rs587777598
rs587777598 		0.851 0.200 6 79921662 missense variant C/G;T snv
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs62407622
rs62407622 		1.000 6 79947369 5 prime UTR variant C/G;T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.010 1.000 1 2018 2018