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: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 21 32 0.13 8 0.10
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		178 18 39 0.18 7 9.1E-02
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		8 45 8 9.8E-02 7 6.7E-02
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		150 18 26 0.13 4 5.0E-02
CUI: C2874202
Disease: Constitutional delay of puberty
Constitutional delay of puberty 		4 3 4 4.9E-02 3 4.5E-02
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		42 8 26 0.27 3 4.2E-02
CUI: C4016875
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA 		1 5 1 1.2E-02 3 4.4E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 3 5.8E-03 2 1.1E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 24 4.4E-02 2 1.7E-02
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		16 7 6 6.5E-02 2 2.8E-02
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		1 17 1 1.2E-02 2 2.5E-02
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		60 12 21 0.17 2 2.6E-02
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		4 20 2 2.4E-02 2 2.4E-02
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		1 14 1 1.2E-02 2 2.6E-02
CUI: C0003128
Disease: Anovulation
Anovulation 		32 8 4 3.6E-02 1 1.4E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 23 2.5E-02 1 7.5E-03
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 3 8.5E-03 1 9.9E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 30 4 6.7E-03 1 1.1E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 4 1.4E-02 1 1.1E-02
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 24 25 6.9E-02 1 1.1E-02
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		57 21 2 1.5E-02 1 1.2E-02
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 27 3 1.1E-02 1 1.1E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 25 2.4E-02 1 1.6E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 25 2.8E-02 1 6.3E-03
CUI: C0028960
Disease: Oligospermia
Oligospermia 		217 72 8 2.7E-02 1 7.3E-03