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: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity
11 0 7 0.18 0 0
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association
25 0 9 0.18 0 0
CUI: C0008058
Disease: Chilblains
Chilblains
12 0 7 0.17 0 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose
13 0 7 0.17 0 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers
14 0 7 0.17 0 0
CUI: C1840238
Disease: Midnasal stenosis
Midnasal stenosis
16 0 7 0.16 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 9 0.16 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes
61 0 13 0.16 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
40 0 10 0.15 0 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus
34 0 9 0.15 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
104 0 18 0.15 0 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly
35 0 9 0.15 0 0
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
20 0 7 0.15 0 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta
21 0 7 0.14 0 0
Neonatal Alloimmune Thrombocytopenia
29 0 8 0.14 0 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2
6 0 5 0.14 0 0
CUI: C0036508
Disease: Seborrheic dermatitis
Seborrheic dermatitis
39 0 9 0.14 0 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax
40 0 9 0.14 0 0
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1
7 0 5 0.14 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome
7 0 5 0.14 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly
75 0 13 0.13 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve
50 0 10 0.13 0 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis
25 0 7 0.13 0 0
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence
60 0 11 0.13 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon
44 0 9 0.13 0 0