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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.680 None 1.000 25 12 2002 2017
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 26 105 0.630 None 1.000 23 12 2002 2019
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: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 53 38 0.400 None 1.000 16 2002 2019
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: 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 10 2 1999 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 10 2 1999 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 10 2 1999 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 10 1 1999 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.390 None 1.000 9 2008 2018
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11
disease Disease or Syndrome 1 6 0.710 None 1.000 7 6 1977 2015
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.430 None 1.000 7 4 2006 2012
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.040 None 1.000 4 2006 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.440 None 1.000 4 1 2009 2018
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 63 2 0.410 None 1.000 3 2009 2015
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.320 None 1.000 3 2 2006 2019
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.510 None 1.000 3 2006 2010
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: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.120 None 1.000 2 2017 2018
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 1 0.510 None 1.000 2 2009 2019
Autosomal Recessive Polycystic Kidney Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 69 317 0.210 None 1.000 2 2013 2019
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.100 None 1.000 2 1 1999 2017
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.120 None 1.000 2 2 2015 2018
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype Finding 160 246 0.100 None 1.000 2 1 1999 2017