rs1555257073, POMP

N. diseases: 25
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.
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Abnormal esophagus morphology
CUI: C4721383
Disease: Abnormal esophagus morphology
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Abnormal natural killer cell morphology
CUI: C4021098
Disease: Abnormal natural killer cell morphology
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Abnormality of the liver
CUI: C4021780
Disease: Abnormality of the liver
8 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Abnormality of the spleen
CUI: C4025749
Disease: Abnormality of the spleen
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Anti-nuclear factor positive
CUI: C0151480
Disease: Anti-nuclear factor positive
3 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Decreased proportion of CD8-positive T cells
CUI: C1839305
Disease: Decreased proportion of CD8-positive T cells
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Decreased proportion of naive B cells
CUI: C4072911
Disease: Decreased proportion of naive B cells
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
9 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Eosinophilia
CUI: C0014457
Disease: Eosinophilia
23 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Exanthema
CUI: C0015230
Disease: Exanthema
14 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Increased IgA level
CUI: C0239984
Disease: Increased IgA level
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Increased IgE level
CUI: C0236175
Disease: Increased IgE level
6 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Increased IgG level
CUI: C1858977
Disease: Increased IgG level
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Increased IgM level
CUI: C1839972
Disease: Increased IgM level
2 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Increased proportion of memory B cells
CUI: C4072914
Disease: Increased proportion of memory B cells
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Intermittent thrombocytopenia
CUI: C1839167
Disease: Intermittent thrombocytopenia
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Neutrophilia (finding)
CUI: C0151683
Disease: Neutrophilia (finding)
1 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
CUI: C4747989
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
3 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
Temperature instability
CUI: C1820737
Disease: Temperature instability
8 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0