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: C0029443
Disease: Osteomyelitis
Osteomyelitis 		1 1 1 1.00 1 1.00
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		1 1 1 1.00 1 1.00
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		1 1 1 1.00 1 1.00
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		1 0 1 1.00 0 0
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		1 1 1 1.00 1 1.00
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		1 1 1 1.00 1 1.00
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		1 1 1 1.00 1 1.00
CUI: C1855899
Disease: Broad first metatarsal
Broad first metatarsal 		1 1 1 1.00 1 1.00
CUI: C1857025
Disease: Progressive congenital scoliosis
Progressive congenital scoliosis 		1 1 1 1.00 1 1.00
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		1 1 1 1.00 1 1.00
CUI: C1859376
Disease: Fused sternal ossification centers
Fused sternal ossification centers 		1 1 1 1.00 1 1.00
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		1 0 1 1.00 0 0
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		1 0 1 1.00 0 0
CUI: C4020919
Disease: Dense metaphyseal bands
Dense metaphyseal bands 		1 1 1 1.00 1 1.00
CUI: C4021260
Disease: Long metacarpals
Long metacarpals 		1 1 1 1.00 1 1.00
CUI: C4021598
Disease: Distal tibial bowing
Distal tibial bowing 		1 1 1 1.00 1 1.00
CUI: C4022171
Disease: Periauricular skin pits
Periauricular skin pits 		1 1 1 1.00 1 1.00
CUI: C4022592
Disease: Oral motor hypotonia
Oral motor hypotonia 		1 1 1 1.00 1 1.00
CUI: C4022680
Disease: Lagopthalmos
Lagopthalmos 		1 1 1 1.00 1 1.00
CUI: C4023249
Disease: Patent ductus arteriosus after birth at term
Patent ductus arteriosus after birth at term 		1 1 1 1.00 1 1.00
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 1 1 1.00 1 1.00
CUI: C4023930
Disease: Enlarged epiphyses of the proximal phalanges of the hand
Enlarged epiphyses of the proximal phalanges of the hand 		1 1 1 1.00 1 1.00
CUI: C4024230
Disease: Contracture of the distal interphalangeal joint of the fingers
Contracture of the distal interphalangeal joint of the fingers 		1 1 1 1.00 1 1.00
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		1 1 1 1.00 1 1.00
CUI: C4025411
Disease: Midline defect of the nose
Midline defect of the nose 		1 1 1 1.00 1 1.00