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: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		13 0 5 0.36 0 0
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		17 0 5 0.28 0 0
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		4 0 2 0.25 0 0
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		24 0 5 0.20 0 0
CUI: C2349595
Disease: Fetal anemia
Fetal anemia 		6 0 2 0.20 0 0
CUI: C0264551
Disease: Pleurisy with effusion
Pleurisy with effusion 		1 0 1 0.17 0 0
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		1 4 1 0.17 1 1.0E-01
CUI: C1399128
Disease: Growth arrest lines
Growth arrest lines 		1 0 1 0.17 0 0
CUI: C1532237
Disease: Disorder of immune function
Disorder of immune function 		1 0 1 0.17 0 0
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		1 0 1 0.17 0 0
CUI: C1842137
Disease: Nonsyndromic sensorineural hearing loss
Nonsyndromic sensorineural hearing loss 		1 0 1 0.17 0 0
CUI: C1849242
Disease: Abnormality of B cell physiology
Abnormality of B cell physiology 		1 0 1 0.17 0 0
CUI: C1863246
Disease: Absent specific antibody response
Absent specific antibody response 		1 0 1 0.17 0 0
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		1 0 1 0.17 0 0
CUI: C3887491
Disease: Exudative pleural effusion
Exudative pleural effusion 		1 0 1 0.17 0 0
CUI: C4022544
Disease: Reduced red cell adenosine deaminase activity
Reduced red cell adenosine deaminase activity 		1 0 1 0.17 0 0
CUI: C4024743
Disease: Aplasia/Hypoplasia of the optic nerve
Aplasia/Hypoplasia of the optic nerve 		1 0 1 0.17 0 0
CUI: C4476851
Disease: 5-minute APGAR score of 1
5-minute APGAR score of 1 		1 0 1 0.17 0 0
CUI: C4476857
Disease: 1-minute APGAR score of 0
1-minute APGAR score of 0 		1 0 1 0.17 0 0
CUI: C4706469
Disease: X-linked Charcot-Marie-Tooth disease type 5
X-linked Charcot-Marie-Tooth disease type 5 		1 0 1 0.17 0 0
CUI: C4721811
Disease: Adenylosuccinate lyase deficiency type 1
Adenylosuccinate lyase deficiency type 1 		1 0 1 0.17 0 0
CUI: C4721812
Disease: Adenylosuccinate lyase deficiency type 4
Adenylosuccinate lyase deficiency type 4 		1 0 1 0.17 0 0
CUI: C4721813
Disease: Adenylosuccinate lyase deficiency type 3
Adenylosuccinate lyase deficiency type 3 		1 0 1 0.17 0 0
CUI: C4721814
Disease: Adenylosuccinate lyase deficiency type 2
Adenylosuccinate lyase deficiency type 2 		1 0 1 0.17 0 0
CUI: C0019068
Disease: Reactive Hemophagocytic Syndrome
Reactive Hemophagocytic Syndrome 		2 0 1 0.14 0 0