CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 CausalMutation disease CLINVAR
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 Biomarker disease CTD_human
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 CausalMutation disease CLINVAR
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 CausalMutation disease CLINVAR
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		0.110 Biomarker group HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 CausalMutation disease CLINVAR
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0006625
Disease: Cachexia
Cachexia 		0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 GeneticVariation group CLINVAR
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO