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: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		26 0 6 8.7E-02 0 0
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome 		4 0 4 8.2E-02 0 0
CUI: C4551976
Disease: HYPOTRICHOSIS 1
HYPOTRICHOSIS 1 		5 0 4 8.0E-02 0 0
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		9 0 4 7.4E-02 0 0
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		24 0 5 7.4E-02 0 0
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		86 0 9 7.1E-02 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 7 7.1E-02 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 7 7.0E-02 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 4 6.6E-02 0 0
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		3 0 3 6.1E-02 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 9 6.0E-02 0 0
CUI: C0003126
Disease: Anosmia
Anosmia 		40 0 5 6.0E-02 0 0
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		42 0 5 5.8E-02 0 0
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		42 0 5 5.8E-02 0 0
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		194 0 13 5.7E-02 0 0
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		139 0 10 5.6E-02 0 0
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		64 0 6 5.6E-02 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 4 5.6E-02 0 0
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		28 0 4 5.5E-02 0 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 4 5.5E-02 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		49 0 5 5.4E-02 0 0
CUI: C0813147
Disease: Stage I Endometrial Carcinoma
Stage I Endometrial Carcinoma 		10 0 3 5.4E-02 0 0
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		30 0 4 5.3E-02 0 0
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		31 0 4 5.3E-02 0 0
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		11 0 3 5.3E-02 0 0