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: C0857576
Disease: Abnormality of thyroid physiology
Abnormality of thyroid physiology 		1 0 1 0.50 0 0
CUI: C2749685
Disease: CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) 		1 2 1 0.50 1 7.1E-02
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
Cystinosis, benign, nonnephropathic 		1 12 1 0.50 11 0.79
CUI: C3537440
Disease: Cystinosis, Infantile Nephropathic
Cystinosis, Infantile Nephropathic 		1 0 1 0.50 0 0
CUI: C4022035
Disease: Abnormality of vitamin D metabolism
Abnormality of vitamin D metabolism 		1 0 1 0.50 0 0
CUI: C4025623
Disease: Elevated intracellular cystine
Elevated intracellular cystine 		1 0 1 0.50 0 0
CUI: C1096610
Disease: Corneal crystalline deposits
Corneal crystalline deposits 		2 0 1 0.33 0 0
CUI: C4022592
Disease: Oral motor hypotonia
Oral motor hypotonia 		3 0 1 0.25 0 0
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		4 0 1 0.20 0 0
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 0 1 0.17 0 0
CUI: C2931187
Disease: Nephropathic cystinosis
Nephropathic cystinosis 		5 55 1 0.17 11 0.19
CUI: C4551565
Disease: Rachitic rosary
Rachitic rosary 		7 0 1 0.12 0 0
CUI: C1969073
Disease: Hyperchloremic metabolic acidosis
Hyperchloremic metabolic acidosis 		8 0 1 0.11 0 0
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		9 0 1 1.0E-01 0 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		11 0 1 8.3E-02 0 0
CUI: C4075603
Disease: Occult chronic type B viral hepatitis
Occult chronic type B viral hepatitis 		13 0 1 7.1E-02 0 0
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		14 0 1 6.7E-02 0 0
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		15 0 1 6.2E-02 0 0
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		15 0 1 6.2E-02 0 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		15 0 1 6.2E-02 0 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		16 0 1 5.9E-02 0 0
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		19 0 1 5.0E-02 0 0
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		21 0 1 4.5E-02 0 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		23 0 1 4.2E-02 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 1 4.2E-02 0 0