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 1.00 0 0
CUI: C2749685
Disease: CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) 		1 0 1 1.00 0 0
CUI: C3537440
Disease: Cystinosis, Infantile Nephropathic
Cystinosis, Infantile Nephropathic 		1 0 1 1.00 0 0
CUI: C4022035
Disease: Abnormality of vitamin D metabolism
Abnormality of vitamin D metabolism 		1 0 1 1.00 0 0
CUI: C4025623
Disease: Elevated intracellular cystine
Elevated intracellular cystine 		1 0 1 1.00 0 0
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
Juvenile nephropathic cystinosis (disorder) 		2 13 1 0.50 11 0.79
CUI: C1096610
Disease: Corneal crystalline deposits
Corneal crystalline deposits 		2 0 1 0.50 0 0
CUI: C4022592
Disease: Oral motor hypotonia
Oral motor hypotonia 		3 0 1 0.33 0 0
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		4 0 1 0.25 0 0
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 0 1 0.20 0 0
CUI: C2931187
Disease: Nephropathic cystinosis
Nephropathic cystinosis 		5 55 1 0.20 11 0.20
CUI: C4551565
Disease: Rachitic rosary
Rachitic rosary 		7 0 1 0.14 0 0
CUI: C1969073
Disease: Hyperchloremic metabolic acidosis
Hyperchloremic metabolic acidosis 		8 0 1 0.12 0 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		11 0 1 9.1E-02 0 0
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		14 0 1 7.1E-02 0 0
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		15 0 1 6.7E-02 0 0
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		15 0 1 6.7E-02 0 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		15 0 1 6.7E-02 0 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		16 0 1 6.2E-02 0 0
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		19 0 1 5.3E-02 0 0
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		21 0 1 4.8E-02 0 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		23 0 1 4.3E-02 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 1 4.3E-02 0 0
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		26 4 1 3.8E-02 1 6.7E-02
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		29 0 1 3.4E-02 0 0