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: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		4 0 1 0.11 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		3 0 1 0.12 0 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density 		1 0 1 0.17 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		13 0 1 5.6E-02 0 0
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		1 0 1 0.17 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		2 2 1 0.14 1 5.6E-02
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland 		2 2 1 0.14 1 5.6E-02
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		5 5 1 1.0E-01 1 4.8E-02
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		2 0 1 0.14 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 0.17 6 0.30
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		1 7 1 0.17 6 0.33
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 5 0.13 7 3.2E-02
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		18 114 3 0.14 5 4.0E-02
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		16 96 2 1.0E-01 4 3.7E-02
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		11 27 3 0.21 2 4.8E-02
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		7 34 2 0.18 2 4.1E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		5 0 1 1.0E-01 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 1 2.9E-02 1 2.0E-02
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		3 4 1 0.12 1 5.0E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 2.4E-02 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		5 7 1 1.0E-01 1 4.3E-02
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		1 1 1 0.17 1 5.9E-02
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		11 0 1 6.2E-02 0 0
CUI: C4016403
Disease: BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC 		1 0 1 0.17 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 2.4E-02 0 0