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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 Biomarker disease BEFREE Our study suggests the genetic etiology of a recognizable dysmorphic syndrome with NDD and CHD and highlights the role of TMEM94 in early development. 30526868 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 Biomarker group BEFREE Our study suggests the genetic etiology of a recognizable dysmorphic syndrome with NDD and CHD and highlights the role of TMEM94 in early development. 30526868 2018
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.010 Biomarker disease BEFREE 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation disease CLINVAR
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: C0011991
Disease: Diarrhea
Diarrhea 		0.100 CausalMutation phenotype CLINVAR
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 CausalMutation disease CLINVAR
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 CausalMutation phenotype CLINVAR
CUI: C0013428
Disease: Dysuria
Dysuria 		0.100 CausalMutation phenotype CLINVAR
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 CausalMutation group CLINVAR
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.100 CausalMutation disease CLINVAR
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 CausalMutation disease CLINVAR
CUI: C0025467
Disease: Mesenteric Cyst
Mesenteric Cyst 		0.100 CausalMutation disease CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 CausalMutation group CLINVAR
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		0.100 CausalMutation disease CLINVAR