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: C0010043
Disease: Corneal Ulcer
Corneal Ulcer 		1 1 1 0.33 1 0.33
CUI: C0029882
Disease: Otitis Media
Otitis Media 		1 1 1 0.33 1 0.33
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		1 0 1 0.33 0 0
CUI: C1419610
Disease: RP23 gene
RP23 gene 		1 0 1 0.33 0 0
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		1 0 1 0.33 0 0
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		1 0 1 0.33 0 0
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		1 0 1 0.33 0 0
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 0 1 0.33 0 0
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		1 0 1 0.33 0 0
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		1 0 1 0.33 0 0
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		1 0 1 0.33 0 0
CUI: C1851878
Disease: OROFACIAL CLEFT 8
OROFACIAL CLEFT 8 		1 0 1 0.33 0 0
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		1 0 1 0.33 0 0
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		1 10 1 0.33 1 8.3E-02
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		1 0 1 0.33 0 0
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		1 0 1 0.33 0 0
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		1 19 1 0.33 1 4.8E-02
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		1 0 1 0.33 0 0
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		1 26 1 0.33 1 3.6E-02
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		2 2 1 0.25 1 0.25
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		2 2 1 0.25 1 0.25
CUI: C0005741
Disease: Blepharitis
Blepharitis 		3 3 1 0.20 1 0.20
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		5 6 1 0.14 1 0.12
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		5 0 1 0.14 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		5 0 1 0.14 0 0