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: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		6 95 3 2.8E-02 1 4.4E-03
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		7 7 3 2.8E-02 1 7.3E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 4 2.8E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 4 2.8E-02 1 5.2E-03
CUI: C0039075
Disease: Syndactyly
Syndactyly 		13 13 3 2.7E-02 1 7.0E-03
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		14 0 3 2.6E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		14 0 3 2.6E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 4 2.6E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		18 0 3 2.5E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		18 0 3 2.5E-02 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 0 3 2.5E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 4 2.5E-02 1 4.5E-03
CUI: C0349588
Disease: Short stature
Short stature 		190 292 7 2.4E-02 2 4.8E-03
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 0 3 2.4E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 25 3 2.4E-02 2 1.3E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 0 3 2.4E-02 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 0 3 2.3E-02 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 3 2.3E-02 1 6.2E-03
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 0 3 2.3E-02 0 0
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 3 2.3E-02 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		31 0 3 2.3E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 3 2.3E-02 1 5.9E-03
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 3 2.3E-02 1 5.8E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 3 2.3E-02 1 6.0E-03
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 3 2.3E-02 1 5.6E-03