Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0239984
Disease: Increased IgA level
Increased IgA level 		1 1 1 1.00 1 1.00
CUI: C1866029
Disease: Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 		1 0 1 1.00 0 0
CUI: C1866031
Disease: Linear arrays of macular hyperkeratoses in flexural areas
Linear arrays of macular hyperkeratoses in flexural areas 		1 0 1 1.00 0 0
CUI: C4072911
Disease: Decreased proportion of naive B cells
Decreased proportion of naive B cells 		1 1 1 1.00 1 1.00
CUI: C4072914
Disease: Increased proportion of memory B cells
Increased proportion of memory B cells 		1 1 1 1.00 1 1.00
CUI: C4721383
Disease: Abnormal esophagus morphology
Abnormal esophagus morphology 		1 1 1 1.00 1 1.00
CUI: C4747989
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 		1 3 1 1.00 1 0.33
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		2 2 1 0.50 1 0.50
CUI: C4021098
Disease: Abnormal natural killer cell morphology
Abnormal natural killer cell morphology 		2 1 1 0.50 1 1.00
CUI: C1866032
Disease: Honeycomb palmoplantar keratoderma
Honeycomb palmoplantar keratoderma 		3 0 1 0.33 0 0
CUI: C0236175
Disease: Increased IgE level
Increased IgE level 		4 6 1 0.25 1 0.17
CUI: C1839167
Disease: Intermittent thrombocytopenia
Intermittent thrombocytopenia 		4 1 1 0.25 1 1.00
CUI: C1839305
Disease: Decreased proportion of CD8-positive T cells
Decreased proportion of CD8-positive T cells 		5 1 1 0.20 1 1.00
CUI: C0151683
Disease: Neutrophilia (finding)
Neutrophilia (finding) 		6 1 1 0.17 1 1.00
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands 		6 0 1 0.17 0 0
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail 		9 0 1 0.11 0 0
CUI: C1820737
Disease: Temperature instability
Temperature instability 		12 8 1 8.3E-02 1 0.12
CUI: C0151205
Disease: Periorbital edema
Periorbital edema 		22 0 1 4.5E-02 0 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		22 0 1 4.5E-02 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 1 1 3.8E-02 1 1.00
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood 		27 0 1 3.7E-02 0 0
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		31 0 1 3.2E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 3.1E-02 1 2.7E-02
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive 		35 3 1 2.9E-02 1 0.33
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		36 0 1 2.8E-02 0 0