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: 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: 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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 CausalMutation group CLINVAR
CUI: C0206619
Disease: Lymphatic Vessel Tumors
Lymphatic Vessel Tumors 		0.100 CausalMutation group CLINVAR
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: 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: 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: C0013404
Disease: Dyspnea
Dyspnea 		0.100 CausalMutation phenotype CLINVAR
CUI: C0013428
Disease: Dysuria
Dysuria 		0.100 CausalMutation phenotype CLINVAR
CUI: C0018681
Disease: Headache
Headache 		0.100 CausalMutation phenotype CLINVAR
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0030252
Disease: Palpitations
Palpitations 		0.100 CausalMutation phenotype CLINVAR
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0042571
Disease: Vertigo
Vertigo 		0.100 CausalMutation phenotype CLINVAR
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		0.100 CausalMutation phenotype CLINVAR
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 CausalMutation phenotype CLINVAR