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: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1864238
Disease: Prolonged miniature endplate currents
Prolonged miniature endplate currents 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1862481
Disease: Limited wrist extension
Limited wrist extension 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1849341
Disease: Triangular mouth
Triangular mouth 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C0947912
Disease: Myasthenias
Myasthenias 		disease 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		disease 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		disease 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C4022580
Disease: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C4022576
Disease: Slow pupillary light response
Slow pupillary light response 		phenotype 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		disease 0.100 None 0 0