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: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		1 12 1 0.50 1 2.6E-02
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		1 9 1 0.50 8 0.29
CUI: C4225179
Disease: COWDEN SYNDROME 7
COWDEN SYNDROME 7 		1 0 1 0.50 0 0
CUI: C3539888
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 		2 0 1 0.33 0 0
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		2 0 1 0.33 0 0
CUI: C4025875
Disease: Abnormality of the anterior fontanelle
Abnormality of the anterior fontanelle 		2 3 1 0.33 1 3.4E-02
CUI: C1869116
Disease: ASTHMA, SUSCEPTIBILITY TO (finding)
ASTHMA, SUSCEPTIBILITY TO (finding) 		4 0 1 0.20 0 0
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		4 5 1 0.20 1 3.2E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		5 0 1 0.17 0 0
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
USHER SYNDROME, TYPE ID 		5 0 1 0.17 0 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 6 1 0.17 1 3.1E-02
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		6 7 1 0.14 1 3.0E-02
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		17 19 1 5.6E-02 1 2.2E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		19 23 1 5.0E-02 1 2.0E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 1 4.5E-02 1 2.0E-02
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		21 24 1 4.5E-02 1 2.0E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 1 4.2E-02 1 2.0E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 1 3.2E-02 1 1.5E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 1 2.8E-02 1 1.4E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 1 2.2E-02 1 9.8E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 1 1.5E-02 1 7.0E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 1 1.2E-02 1 8.4E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 1 1.1E-02 1 7.6E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 1 7.8E-03 1 5.3E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.2E-03 1 3.7E-03