rs752362727, TMEM67

N. diseases: 22
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
0.800 CausalMutation CLINVAR
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
0.800 GeneticVariation UNIPROT
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Meckel syndrome type 3
CUI: C1846357
Disease: Meckel syndrome type 3
0.700 CausalMutation CLINVAR
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
0.700 GeneticVariation CLINVAR
Kidney damage
CUI: C1408258
Disease: Kidney damage
0.700 GeneticVariation CLINVAR
Low Vision
CUI: C0042798
Disease: Low Vision
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 GeneticVariation CLINVAR
Barrel chest
CUI: C0264172
Disease: Barrel chest
0.700 GeneticVariation CLINVAR
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
0.700 GeneticVariation CLINVAR
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
0.700 GeneticVariation CLINVAR
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
0.700 CausalMutation CLINVAR
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
0.700 GeneticVariation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 GeneticVariation CLINVAR
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.700 GeneticVariation CLINVAR
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
0.700 GeneticVariation CLINVAR
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 GeneticVariation CLINVAR
NEPHRONOPHTHISIS 11
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
0.700 CausalMutation CLINVAR
Tremor
CUI: C0040822
Disease: Tremor
0.700 GeneticVariation CLINVAR
Renal cyst
CUI: C3887499
Disease: Renal cyst
0.700 GeneticVariation CLINVAR
Cerebellar malformation
CUI: C4025708
Disease: Cerebellar malformation
0.700 GeneticVariation CLINVAR
Peritonitis
CUI: C0031154
Disease: Peritonitis
0.700 GeneticVariation CLINVAR