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: C0451693
Disease: Severe combined immunodeficiency with low T- and B-cell numbers
Severe combined immunodeficiency with low T- and B-cell numbers 		3 0 2 0.50 0 0
CUI: C1865372
Disease: Athabaskan severe combined immunodeficiency
Athabaskan severe combined immunodeficiency 		1 0 1 0.33 0 0
CUI: C1865373
Disease: SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL 		1 1 1 0.33 1 1.0E-01
CUI: C4014833
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		1 3 1 0.33 1 8.3E-02
CUI: C4016698
Disease: IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES 		1 1 1 0.33 1 1.0E-01
CUI: C0001364
Disease: Massive Hepatic Necrosis
Massive Hepatic Necrosis 		2 0 1 0.25 0 0
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		2 0 1 0.25 0 0
CUI: C1865371
Disease: SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE 		2 1 1 0.25 1 1.0E-01
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		2 0 1 0.25 0 0
CUI: C0576999
Disease: Tonsil absent
Tonsil absent 		3 0 1 0.20 0 0
CUI: C2931884
Disease: Reticuloendotheliosis, familial, with eosinophilia
Reticuloendotheliosis, familial, with eosinophilia 		3 0 1 0.20 0 0
CUI: C4016019
Disease: DNA Ligase I Deficiency
DNA Ligase I Deficiency 		3 0 1 0.20 0 0
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		4 0 1 0.17 0 0
CUI: C4025683
Disease: Lymph node hypoplasia
Lymph node hypoplasia 		4 0 1 0.17 0 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		13 0 2 0.14 0 0
CUI: C0700216
Disease: Structural Clinical Interview for DSM-III
Structural Clinical Interview for DSM-III 		5 0 1 0.14 0 0
CUI: C1846574
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 		5 0 1 0.14 0 0
CUI: C1849236
Disease: Severe combined immunodeficiency, atypical
Severe combined immunodeficiency, atypical 		5 0 1 0.14 0 0
CUI: C3808828
Disease: Recurrent gastroenteritis
Recurrent gastroenteritis 		5 0 1 0.14 0 0
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		14 0 2 0.13 0 0
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		6 0 1 0.12 0 0
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		6 0 1 0.12 0 0
CUI: C4024599
Disease: Chronic oral candidiasis
Chronic oral candidiasis 		8 0 1 1.0E-01 0 0
CUI: C4023438
Disease: Recurrent mycobacterial infections
Recurrent mycobacterial infections 		9 0 1 9.1E-02 0 0
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		9 0 1 9.1E-02 0 0