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: C0575802
Disease: Small hand
Small hand 		108 0 16 0.11 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 16 0.10 0 0
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		90 0 14 0.10 0 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		178 0 22 0.10 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 5 16 9.9E-02 1 0.14
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 0 14 9.8E-02 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 19 9.7E-02 0 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		91 0 13 9.4E-02 0 0
CUI: C4054476
Disease: Monogenic Obesity
Monogenic Obesity 		11 0 6 9.2E-02 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 15 8.6E-02 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 0 16 8.6E-02 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 13 8.5E-02 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 16 8.3E-02 0 0
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		6 0 5 8.2E-02 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 17 8.0E-02 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 17 8.0E-02 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 19 8.0E-02 0 0
CUI: C0021359
Disease: Infertility
Infertility 		130 0 14 8.0E-02 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 0 9 7.8E-02 0 0
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		64 0 9 7.8E-02 0 0
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		9 0 5 7.8E-02 0 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs 		9 0 5 7.8E-02 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 13 7.7E-02 0 0
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		11 0 5 7.6E-02 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 6 7.5E-02 0 0