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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 1 1.8E-02 1 1.6E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 2.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 2 3.5E-02 1 1.5E-02
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 2.3E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		1 0 1 2.3E-02 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 3 7.0E-02 4 8.2E-02
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 5 2 4.4E-02 2 3.8E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 2 3.8E-02 1 1.7E-02
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 12 1 2.2E-02 1 1.7E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 4 5.6E-02 3 3.6E-02
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 1 1 2.3E-02 1 2.0E-02
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 2.3E-02 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		7 10 1 2.0E-02 2 3.5E-02
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		1 2 1 2.3E-02 2 4.1E-02
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		7 7 3 6.4E-02 2 3.7E-02
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		1 0 1 2.3E-02 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		1 0 1 2.3E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		2 2 1 2.3E-02 1 2.0E-02
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		7 0 1 2.0E-02 0 0
CUI: C4025100
Disease: Abnormal respiratory motile cilium morphology
Abnormal respiratory motile cilium morphology 		2 0 1 2.3E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 1 2.1E-02 1 1.8E-02
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		2 2 2 4.7E-02 2 4.1E-02
CUI: C4072950
Disease: Abnormal timing of pattern reversal visual evoked potentials
Abnormal timing of pattern reversal visual evoked potentials 		1 1 1 2.3E-02 1 2.0E-02
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		1 1 1 2.3E-02 1 2.0E-02
CUI: C0262665
Disease: Abnormal vocal cord morphology
Abnormal vocal cord morphology 		1 2 1 2.3E-02 2 4.1E-02