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: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		6 0 3 0.15 0 0
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		14 0 4 0.15 0 0
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder 		8 0 3 0.14 0 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		11 0 3 0.12 0 0
CUI: C0266604
Disease: Congenital aplasia of inner ear
Congenital aplasia of inner ear 		2 0 2 0.12 0 0
CUI: C0266677
Disease: Synotus
Synotus 		2 0 2 0.12 0 0
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		2 0 2 0.12 0 0
CUI: C4024163
Disease: Abnormal temporal bone morphology
Abnormal temporal bone morphology 		2 0 2 0.12 0 0
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		12 0 3 0.12 0 0
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		3 0 2 0.11 0 0
CUI: C0265242
Disease: Otocephaly
Otocephaly 		4 0 2 0.11 0 0
CUI: C4020963
Disease: Absent nares
Absent nares 		4 0 2 0.11 0 0
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw 		5 0 2 1.0E-01 0 0
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		5 0 2 1.0E-01 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 3 9.7E-02 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 0 3 9.1E-02 0 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		20 0 3 8.8E-02 0 0
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		8 0 2 8.7E-02 0 0
CUI: C2931501
Disease: Microphthalmia associated with colobomatous cyst
Microphthalmia associated with colobomatous cyst 		8 0 2 8.7E-02 0 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		8 0 2 8.7E-02 0 0
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		8 0 2 8.7E-02 0 0
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		21 0 3 8.6E-02 0 0
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		21 0 3 8.6E-02 0 0
CUI: C2875300
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type)
Peroneal muscular atrophy (axonal type) (hypertrophic type) 		21 0 3 8.6E-02 0 0
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		26 0 3 7.5E-02 0 0