TMEM94, transmembrane protein 94, 9772

N. diseases: 103; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 30526868 2018
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 CausalMutation disease CLINVAR
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.100 CausalMutation disease CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 CausalMutation disease CLINVAR
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 CausalMutation disease CLINVAR
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.100 CausalMutation disease CLINVAR
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 CausalMutation disease CLINVAR
CUI: C0025467
Disease: Mesenteric Cyst
Mesenteric Cyst 		0.100 CausalMutation disease CLINVAR
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		0.100 CausalMutation disease CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation disease CLINVAR
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation disease CLINVAR
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia 		0.100 CausalMutation disease CLINVAR
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 Biomarker disease HPO
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.100 CausalMutation disease CLINVAR
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 CausalMutation disease CLINVAR
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO