ZNF148, zinc finger protein 148, 7707

N. diseases: 81; 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: C4310644
Disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 		disease Disease or Syndrome 1 1 0.600 moderate 1.000 1 1 2016 2016
CUI: C0861876
Disease: Recurrent Hepatocellular Carcinoma
Recurrent Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2003 2003
CUI: C0002884
Disease: Hypochromic anemia
Hypochromic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		phenotype Finding 17 1 0.100 None 0
CUI: C0020636
Disease: underdevelopment
underdevelopment 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 22 0.010 None 1.000 1 2016 2016
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 52 7 0.100 None 0
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.010 None 1.000 1 2016 2016
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		phenotype Finding 77 0.100 None 0
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 81 3 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 88 6 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 0
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 95 3 0.100 None 0
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 100 2 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0
CUI: C0085695
Disease: Chronic gastritis
Chronic gastritis 		disease Digestive System Diseases Disease or Syndrome 114 11 0.010 None 1.000 1 1997 1997
CUI: C0276138
Disease: Viral myocarditis
Viral myocarditis 		disease Infections; Cardiovascular Diseases Disease or Syndrome 129 2 0.010 None 1.000 1 2017 2017
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		disease Eye Diseases Disease or Syndrome 142 29 0.100 None 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 148 11 0.100 None 0
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 170 7 0.100 None 0
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0