Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
1 2 1 1.00 1 0.12
CUI: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile
7 0 1 0.14 0 0
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
12 0 1 8.3E-02 0 0
CUI: C0041657
Disease: Unconscious State
Unconscious State
13 0 1 7.7E-02 0 0
Congenital disorder of glycosylation type 1s
19 0 1 5.3E-02 0 0
Juvenile pauciarticular chronic arthritis
26 0 1 3.8E-02 0 0
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
26 0 1 3.8E-02 0 0
Rheumatoid Arthritis, Systemic Juvenile
30 0 1 3.3E-02 0 0
CUI: C0003028
Disease: Anhidrosis
Anhidrosis
37 0 1 2.7E-02 0 0
CUI: C1832097
Disease: EPIDERMAL DIFFERENTIATION COMPLEX
EPIDERMAL DIFFERENTIATION COMPLEX
38 0 1 2.6E-02 0 0
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis
39 0 1 2.6E-02 0 0
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
41 0 1 2.4E-02 0 0
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma
48 0 1 2.1E-02 0 0
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune
51 0 1 2.0E-02 0 0
Oligoarticular Juvenile Idiopathic Arthritis
51 0 1 2.0E-02 0 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis
69 0 1 1.4E-02 0 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency
71 0 1 1.4E-02 0 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
72 0 1 1.4E-02 0 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE
87 0 1 1.1E-02 0 0
Systemic onset juvenile chronic arthritis
90 0 1 1.1E-02 0 0
Congenital Disorders of Glycosylation
102 0 1 9.8E-03 0 0
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
131 0 1 7.6E-03 0 0
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases
144 0 1 6.9E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
146 0 1 6.8E-03 0 0
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
171 0 1 5.8E-03 0 0