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: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		19 0 5 0.12 0 0
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		3 2 3 0.11 2 0.29
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 0 4 0.11 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 4 9.3E-02 2 0.12
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 2 3 9.1E-02 2 0.29
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		9 0 3 9.1E-02 0 0
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		12 0 3 8.3E-02 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		14 7 3 7.9E-02 2 0.17
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 9 7.5E-02 0 0
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		16 0 3 7.5E-02 0 0
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		2 3 2 7.4E-02 1 0.11
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 7.4E-02 2 0.11
CUI: C1850259
Disease: Short tibia
Short tibia 		17 0 3 7.3E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 4 7.3E-02 2 4.8E-02
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 7.1E-02 1 0.11
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		4 0 2 6.9E-02 0 0
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		4 0 2 6.9E-02 0 0
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 2 6.9E-02 2 0.20
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		21 4 3 6.7E-02 2 0.22
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		6 0 2 6.5E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 4 6.2E-02 2 3.3E-02
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 2 6.2E-02 2 0.20
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity 		7 0 2 6.2E-02 0 0
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		25 0 3 6.1E-02 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		78 23 6 6.1E-02 2 7.1E-02