TMEM94, transmembrane protein 94, 9772

N. diseases: 103; N. variants: 2
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		disease Neoplasms; Eye Diseases; Nervous System Diseases Neoplastic Process 22 9 0.100 None 0 2
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C0920299
Disease: Overriding toe
Overriding toe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0 2
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0 2
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease Cardiovascular Diseases Anatomical Abnormality 39 15 0.100 None 0 2
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		disease Acquired Abnormality 27 2 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 57 24 0.100 None 0 2
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 0 2
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		disease Musculoskeletal Diseases Disease or Syndrome 20 17 0.100 None 0 2
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0 2
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0 2
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0 2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0 2
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0 2
CUI: C0426870
Disease: Large hand
Large hand 		phenotype Finding 35 7 0.100 None 0 2
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 0 2
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype Disease or Syndrome 30 25 0.100 None 0 2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality 11 6 0.100 None 0 2
CUI: C1839816
Disease: Long neck
Long neck 		phenotype Finding 7 3 0.100 None 0 2
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0 2