Source: CLINVAR

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: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
MECKEL SYNDROME, TYPE 11 		disease 0.600 None 1.000 3 6 2012 2016
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C3554235
Disease: JOUBERT SYNDROME 20
JOUBERT SYNDROME 20 		disease 0.600 None 1.000 3 4 2012 2016
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.430 limited 1.000 0 2 2012 2019
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		disease 0.420 None 1.000 0 1 2013 2019
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		phenotype 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1