NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease CTD_human
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 Biomarker group HPO
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.120 Biomarker phenotype HPO
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.120 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.110 Biomarker disease HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 Biomarker group HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		0.100 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0030196
Disease: Pain in limb
Pain in limb 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO