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 Biomarker disease GENOMICS_ENGLAND Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 30526868 2018
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: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.300 Biomarker group GENOMICS_ENGLAND Loss of Tmem94 in mouse model generated by CRISPR/Cas9 was embryonic lethal and led to craniofacial and cardiac abnormalities and abnormal neuronal migration pattern, suggesting that this gene is important in craniofacial, cardiovascular, and nervous system development. 30526868 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 30526868 2018
CUI: C4021817
Disease: Abnormality of head or neck
Abnormality of head or neck 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 30526868 2018
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 CausalMutation phenotype CLINVAR
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: C0003862
Disease: Arthralgia
Arthralgia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0004604
Disease: Back Pain
Back Pain 		0.100 CausalMutation phenotype CLINVAR
CUI: C0009806
Disease: Constipation
Constipation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 CausalMutation phenotype CLINVAR
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: C0013404
Disease: Dyspnea
Dyspnea 		0.100 CausalMutation phenotype CLINVAR
CUI: C0013428
Disease: Dysuria
Dysuria 		0.100 CausalMutation phenotype CLINVAR
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: C0018681
Disease: Headache
Headache 		0.100 CausalMutation phenotype CLINVAR
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation group CLINVAR
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 CausalMutation group CLINVAR