TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016506
Disease: Foot Deformities
Foot Deformities
0.100 Biomarker group HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
0.100 Biomarker disease HPO
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.100 Biomarker group HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 Biomarker group HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.100 Biomarker disease HPO
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst
0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis
0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 Biomarker disease HPO
CUI: C0040412
Disease: Fissured tongue
Fissured tongue
0.100 Biomarker disease HPO
CUI: C0040822
Disease: Tremor
Tremor
0.100 Biomarker phenotype HPO
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract
0.100 Biomarker disease HPO
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function
0.100 Biomarker phenotype HPO
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc
0.100 Biomarker disease HPO