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: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 3 6.7E-02 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 0 14 6.6E-02 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 15 6.4E-02 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 6 6.3E-02 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 3 6.2E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 23 5.4E-02 0 0
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		20 0 3 5.4E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 23 5.2E-02 0 0
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		2 0 2 5.1E-02 0 0
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		2 0 2 5.1E-02 0 0
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		2 0 2 5.1E-02 0 0
CUI: C3809431
Disease: MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE 		2 1 2 5.1E-02 1 0.11
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 6 5.1E-02 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 6 5.0E-02 0 0
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		3 0 2 5.0E-02 0 0
CUI: C3502492
Disease: Microcephaly with Chorioretinopathy, Autosomal Recessive
Microcephaly with Chorioretinopathy, Autosomal Recessive 		4 0 2 4.9E-02 0 0
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		4 0 2 4.9E-02 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 9 5 4.8E-02 1 5.9E-02
CUI: C1563697
Disease: Chromosome Instability Syndromes
Chromosome Instability Syndromes 		6 0 2 4.7E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 6 4.7E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 20 4.5E-02 0 0
CUI: C1970308
Disease: Selective tooth agenesis
Selective tooth agenesis 		8 0 2 4.4E-02 0 0
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia 		9 0 2 4.3E-02 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 4 4.3E-02 0 0
CUI: C0376356
Disease: Premenstrual Tension
Premenstrual Tension 		10 0 2 4.3E-02 0 0