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: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		11 0 8 0.13 0 0
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		38 0 11 0.13 0 0
CUI: C1301937
Disease: Talipes
Talipes 		74 0 15 0.13 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 10 0.12 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 13 0.12 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		80 0 15 0.12 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 16 0.12 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 17 0.12 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 17 0.11 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 12 0.11 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 15 0.11 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 13 0.11 0 0
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		89 27 14 0.10 2 5.7E-02
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 8 0.10 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 12 0.10 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 0 15 0.10 0 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		179 61 22 0.10 6 9.2E-02
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		6 0 6 0.10 0 0
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		28 0 8 0.10 0 0
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		28 0 8 0.10 0 0
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		28 0 8 0.10 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 18 0.10 0 0
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		29 0 8 1.0E-01 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 17 9.9E-02 0 0
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 28 13 9.9E-02 2 5.6E-02