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: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		1 35 1 1.0E-01 5 0.14
CUI: C0162429
Disease: Malnutrition
Malnutrition 		417 29 4 9.5E-03 2 5.9E-02
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		1 7 1 1.0E-01 2 0.17
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		1 8 1 1.0E-01 2 0.15
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		6 19 2 0.14 2 8.3E-02
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		1 19 1 1.0E-01 2 8.3E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 2 3.9E-03 1 9.6E-03
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		45 13 2 3.8E-02 1 5.3E-02
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		10 14 1 5.3E-02 1 5.0E-02
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		57 70 2 3.1E-02 1 1.3E-02
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy 		10 1 1 5.3E-02 1 0.14
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		1 11 1 1.0E-01 1 5.9E-02
CUI: C4023512
Disease: Myoclonic absences
Myoclonic absences 		2 2 1 9.1E-02 1 0.12
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 8.9E-03 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 0 1 1.4E-02 0 0
CUI: C0001122
Disease: Acidosis
Acidosis 		28 0 1 2.7E-02 0 0
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		94 0 1 9.7E-03 0 0
CUI: C0001206
Disease: Acromegaly
Acromegaly 		138 0 1 6.8E-03 0 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		435 0 2 4.5E-03 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 0 3 1.3E-03 0 0
CUI: C0001429
Disease: Adenolymphoma
Adenolymphoma 		21 0 1 3.3E-02 0 0
CUI: C0001430
Disease: Adenoma
Adenoma 		1183 0 2 1.7E-03 0 0
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction 		50 0 1 1.7E-02 0 0
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		94 0 1 9.7E-03 0 0
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		87 0 1 1.0E-02 0 0