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: C4749123
Disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS 		2 0 2 0.67 0 0
CUI: C0457756
Disease: Tooth absent
Tooth absent 		5 6 3 0.60 3 0.50
CUI: C2363747
Disease: Neurological decompensation
Neurological decompensation 		1 0 1 0.33 0 0
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		1 38 1 0.33 1 2.5E-02
CUI: C4021229
Disease: Low insertion of columella
Low insertion of columella 		1 0 1 0.33 0 0
CUI: C4024976
Disease: Episodic generalized hypotonia
Episodic generalized hypotonia 		1 0 1 0.33 0 0
CUI: C4748560
Disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS 		1 0 1 0.33 0 0
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		2 11 1 0.25 1 7.7E-02
CUI: C1863062
Disease: Episodic quadriplegia
Episodic quadriplegia 		2 0 1 0.25 0 0
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		2 0 1 0.25 0 0
CUI: C3549447
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 		2 0 1 0.25 0 0
CUI: C3553932
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 98
DEAFNESS, AUTOSOMAL RECESSIVE 98 		2 0 1 0.25 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 7 3 0.23 3 0.43
CUI: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed 		5 0 1 0.14 0 0
CUI: C0730278
Disease: Severe nonproliferative diabetic retinopathy
Severe nonproliferative diabetic retinopathy 		5 0 1 0.14 0 0
CUI: C0021479
Disease: INJECTED EYE
INJECTED EYE 		6 0 1 0.12 0 0
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot 		6 0 1 0.12 0 0
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		6 0 1 0.12 0 0
CUI: C0236780
Disease: Mixed bipolar I disorder
Mixed bipolar I disorder 		7 0 1 0.11 0 0
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 		8 0 1 1.0E-01 0 0
CUI: C3554568
Disease: Young adult onset
Young adult onset 		8 0 1 1.0E-01 0 0
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		9 0 1 9.1E-02 0 0
CUI: C0743841
Disease: Disorder characterized by fever
Disorder characterized by fever 		9 0 1 9.1E-02 0 0
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		9 25 1 9.1E-02 1 3.7E-02
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		9 0 1 9.1E-02 0 0