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: C4022944
Disease: Abnormal protein N-linked glycosylation
Abnormal protein N-linked glycosylation 		1 0 1 8.3E-02 0 0
CUI: C4023055
Disease: Abnormality of central motor conduction
Abnormality of central motor conduction 		1 0 1 8.3E-02 0 0
CUI: C4024907
Disease: Mixed demyelinating and axonal polyneuropathy
Mixed demyelinating and axonal polyneuropathy 		1 0 1 8.3E-02 0 0
CUI: C4073164
Disease: Decreased urinary copper concentration
Decreased urinary copper concentration 		1 1 1 8.3E-02 1 0.20
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		1 0 1 8.3E-02 0 0
CUI: C4225190
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		1 0 1 8.3E-02 0 0
CUI: C4225191
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo 		1 0 1 8.3E-02 0 0
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47 		1 5 1 8.3E-02 1 0.11
CUI: C4479353
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq 		1 0 1 8.3E-02 0 0
CUI: C4732750
Disease: Decreased hemoglobin concentration
Decreased hemoglobin concentration 		1 0 1 8.3E-02 0 0
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		15 1 2 8.0E-02 1 0.20
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		16 0 2 7.7E-02 0 0
CUI: C1141933
Disease: Multi-organ disorder
Multi-organ disorder 		2 0 1 7.7E-02 0 0
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		2 0 1 7.7E-02 0 0
CUI: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		2 0 1 7.7E-02 0 0
CUI: C1849489
Disease: Increased serum alanine
Increased serum alanine 		2 3 1 7.7E-02 1 0.14
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		2 0 1 7.7E-02 0 0
CUI: C2931082
Disease: Familial apoceruloplasmin deficiency
Familial apoceruloplasmin deficiency 		2 0 1 7.7E-02 0 0
CUI: C2931429
Disease: Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections 		2 0 1 7.7E-02 0 0
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		2 17 1 7.7E-02 1 4.8E-02
CUI: C3672035
Disease: Copper accumulation in liver
Copper accumulation in liver 		2 0 1 7.7E-02 0 0
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		2 0 1 7.7E-02 0 0
CUI: C4022933
Disease: Abnormal protein O-linked glycosylation
Abnormal protein O-linked glycosylation 		2 0 1 7.7E-02 0 0
CUI: C4025031
Disease: Aplasia/hypoplasia of the humerus
Aplasia/hypoplasia of the humerus 		2 0 1 7.7E-02 0 0
CUI: C4025537
Disease: Humerus varus
Humerus varus 		2 0 1 7.7E-02 0 0