Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.410 None 1.000 0 0 2010 2017
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		disease 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		disease 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1836393
Disease: Abnormality of ocular smooth pursuit
Abnormality of ocular smooth pursuit 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		disease 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		disease 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0