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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.400 strong 1.000 1 2 2018 2018
CUI: C4021817
Disease: Abnormality of head or neck
Abnormality of head or neck 		phenotype Anatomical Abnormality 6 1 0.300 strong 1.000 1 2018 2018
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 0 2
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		phenotype Finding 77 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		phenotype Finding 60 4 0.100 None 0 2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0 2
CUI: C0426870
Disease: Large hand
Large hand 		phenotype Finding 35 7 0.100 None 0 2
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: 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: 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: 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
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype Finding 41 10 0.100 None 0 2
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0 2
CUI: C1842681
Disease: Hypoplastic helices
Hypoplastic helices 		phenotype Finding 4 2 0.100 None 0 2
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 2
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0