TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
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: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6
disease Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 48 0.900 None 1.000 18 48 1977 2017
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11
disease Disease or Syndrome 1 6 0.710 None 1.000 7 6 1977 2015
BARDET-BIEDL SYNDROME 14, MODIFIER OF
phenotype Finding 1 1 0.100 None 0 1
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 17 0.600 None 1.000 3 4 1977 2015
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation
disease Finding 2 3 0.100 None 0 2
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 39 0.950 None 1.000 16 39 1977 2019
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 0.510 strong 1.000 1 2018 2018
CUI: C1857662
Disease: COACH syndrome
COACH syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 38 0.740 None 1.000 12 26 1977 2017
Renal hepatic pancreatic dysplasia Dandy Walker cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 4 5 0.010 None 1.000 1 2017 2017
Tubular basement membrane disintegration
phenotype Finding 4 0.100 None 0
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis
phenotype Finding 4 0.100 None 0
Thickened superior cerebellar peduncle
disease Finding 4 0.100 None 0
CUI: C1408258
Disease: Kidney damage
Kidney damage
phenotype Finding 5 6 0.100 None 0 2
Multiple small medullary renal cysts
disease Disease or Syndrome 6 1 0.100 None 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 7 9 0.010 None 1.000 1 2009 2009
Elongated superior cerebellar peduncle
phenotype Finding 7 0.100 None 0
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts
disease Disease or Syndrome 8 0.100 None 0
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 9 0.100 None 0
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation
phenotype Finding 12 8 0.100 None 0
CUI: C0031154
Disease: Peritonitis
Peritonitis
disease Digestive System Diseases; Infections Pathologic Function 15 2 0.100 None 0 2
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy
phenotype Finding 17 1 0.100 None 0
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment
phenotype Diagnostic Procedure 17 0.100 None 0
CUI: C0264172
Disease: Barrel chest
Barrel chest
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 18 2 0.100 None 0 2
CUI: C3887873
Disease: Hearing Loss
Hearing Loss
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 18 61 0.100 None 0 1