Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1856136
Disease: Conical incisor
Conical incisor 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0576226
Disease: Short foot
Short foot 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1857002
Disease: Capitate-hamate fusion
Capitate-hamate fusion 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		disease 0.100 None 0 0