Source: CLINVAR ×
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: C0018621
Disease: Hay fever
Hay fever 		1 1 1 2.3E-02 1 1.7E-02
CUI: C0023138
Disease: Laurence-Moon Syndrome
Laurence-Moon Syndrome 		1 0 1 2.3E-02 0 0
CUI: C0029882
Disease: Otitis Media
Otitis Media 		1 0 1 2.3E-02 0 0
CUI: C0031154
Disease: Peritonitis
Peritonitis 		1 0 1 2.3E-02 0 0
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		1 0 1 2.3E-02 0 0
CUI: C0085417
Disease: Epilepsy, Complex Partial
Epilepsy, Complex Partial 		1 0 1 2.3E-02 0 0
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		1 0 1 2.3E-02 0 0
CUI: C0151572
Disease: Reflex, Corneal, Decreased
Reflex, Corneal, Decreased 		1 0 1 2.3E-02 0 0
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		1 0 1 2.3E-02 0 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		1 0 1 2.3E-02 0 0
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		1 0 1 2.3E-02 0 0
CUI: C0238122
Disease: Fallopian Tube Carcinoma
Fallopian Tube Carcinoma 		1 0 1 2.3E-02 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		1 1 1 2.3E-02 1 1.7E-02
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		1 0 1 2.3E-02 0 0
CUI: C0239846
Disease: Hand-wringing
Hand-wringing 		1 0 1 2.3E-02 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		1 0 1 2.3E-02 0 0
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		1 0 1 2.3E-02 0 0
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		1 0 1 2.3E-02 0 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		1 0 1 2.3E-02 0 0
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		1 0 1 2.3E-02 0 0
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		1 63 1 2.3E-02 2 1.7E-02
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome 		1 0 1 2.3E-02 0 0
CUI: C0425492
Disease: Irregular breathing
Irregular breathing 		1 0 1 2.3E-02 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		1 0 1 2.3E-02 0 0
CUI: C0576690
Disease: Impaired body position sense
Impaired body position sense 		1 2 1 2.3E-02 2 3.4E-02