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: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 6 0.14 0 0
CUI: C0597167
Disease: Islets of Langerhans hyperplasia
Islets of Langerhans hyperplasia 		12 0 5 0.13 0 0
CUI: C1837092
Disease: Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 		4 0 4 0.13 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 12 0.13 0 0
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		4 0 4 0.13 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 8 0.12 0 0
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia 		15 0 5 0.12 0 0
CUI: C0009421
Disease: Comatose
Comatose 		78 0 11 0.11 0 0
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		33 0 6 0.10 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		102 0 12 9.9E-02 0 0
CUI: C4073162
Disease: Elevated hemoglobin A1c
Elevated hemoglobin A1c 		14 0 4 9.8E-02 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		14 0 4 9.8E-02 0 0
CUI: C1837122
Disease: Myasthenic Syndrome, Congenital, Fast-Channel
Myasthenic Syndrome, Congenital, Fast-Channel 		3 0 3 9.7E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 0 13 9.6E-02 0 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance 		15 0 4 9.5E-02 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 6 9.2E-02 0 0
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		5 0 3 9.1E-02 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 12 9.0E-02 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 12 8.6E-02 0 0
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia 		7 0 3 8.6E-02 0 0
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		20 0 4 8.5E-02 0 0
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		20 0 4 8.5E-02 0 0
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		8 0 3 8.3E-02 0 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		8 0 3 8.3E-02 0 0
CUI: C4321446
Disease: K ATP Permanent Neonatal Diabetes
K ATP Permanent Neonatal Diabetes 		8 0 3 8.3E-02 0 0