rs1557055405, ABCD1

N. diseases: 21
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.
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
116 0.807 0.400 X 153743532 missense variant T/A snv 0.800 1.000 2 1998 2012
Ankle clonus
CUI: C0238651
Disease: Ankle clonus
5 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Asthma
CUI: C0004096
Disease: Asthma
1536 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Babinski Reflex
CUI: C0034935
Disease: Babinski Reflex
11 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Brisk reflexes
CUI: C2673700
Disease: Brisk reflexes
7 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Impaired distal proprioception
CUI: C4021585
Disease: Impaired distal proprioception
1 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Impaired pain sensation
CUI: C1837522
Disease: Impaired pain sensation
4 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Impaired vibration sensation in the lower limbs
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
4 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Low Back Pain
CUI: C0024031
Disease: Low Back Pain
11 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Lower limb hyperreflexia
CUI: C1836696
Disease: Lower limb hyperreflexia
6 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Progressive spastic paraplegia
CUI: C1855483
Disease: Progressive spastic paraplegia
1 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Progressive spasticity
CUI: C1859520
Disease: Progressive spasticity
5 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Romberg's sign positive
CUI: C0240914
Disease: Romberg's sign positive
6 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Serum lipids high (finding)
CUI: C0428465
Disease: Serum lipids high (finding)
7 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
17 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Urgency of micturition
CUI: C0085606
Disease: Urgency of micturition
1 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Urinary Stress Incontinence
CUI: C0042025
Disease: Urinary Stress Incontinence
5 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
Very long chain fatty acid accumulation
CUI: C3279397
Disease: Very long chain fatty acid accumulation
1 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998