Source: CLINVAR ×
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: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		1 0 1 8.3E-02 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		1 0 1 8.3E-02 0 0
CUI: C1851313
Disease: Limited shoulder movement
Limited shoulder movement 		1 0 1 8.3E-02 0 0
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		1 0 1 8.3E-02 0 0
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		1 0 1 8.3E-02 0 0
CUI: C1856304
Disease: GSD IV, Neuromuscular Form, Congenital
GSD IV, Neuromuscular Form, Congenital 		1 0 1 8.3E-02 0 0
CUI: C1856305
Disease: GSD IV, Neuromuscular Form, Childhood
GSD IV, Neuromuscular Form, Childhood 		1 0 1 8.3E-02 0 0
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		1 0 1 8.3E-02 0 0
CUI: C1861983
Disease: Heart Block, Nonprogressive
Heart Block, Nonprogressive 		1 0 1 8.3E-02 0 0
CUI: C1861984
Disease: Cardiac Conduction Defect, Nonprogressive
Cardiac Conduction Defect, Nonprogressive 		1 0 1 8.3E-02 0 0
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		1 0 1 8.3E-02 0 0
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		1 11 1 8.3E-02 1 4.0E-02
CUI: C2673351
Disease: Paucity of anterior horn motor neurons
Paucity of anterior horn motor neurons 		1 1 1 8.3E-02 1 6.7E-02
CUI: C2674259
Disease: NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder) 		1 0 1 8.3E-02 0 0
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Fibrillation, Paroxysmal Familial, 1 		1 0 1 8.3E-02 0 0
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		1 0 1 8.3E-02 0 0
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		1 0 1 8.3E-02 0 0
CUI: C3151609
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS 		1 0 1 8.3E-02 0 0
CUI: C3151610
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY 		1 0 1 8.3E-02 0 0
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		1 0 1 8.3E-02 0 0
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		1 0 1 8.3E-02 0 0
CUI: C4016652
Disease: ATRIAL STANDSTILL 1, DIGENIC
ATRIAL STANDSTILL 1, DIGENIC 		1 0 1 8.3E-02 0 0
CUI: C4017114
Disease: GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC 		1 0 1 8.3E-02 0 0
CUI: C4017116
Disease: GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC 		1 0 1 8.3E-02 0 0
CUI: C4017117
Disease: GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR 		1 0 1 8.3E-02 0 0