Joubert syndrome

Disease Term Disease ID Gene Symbol Classification References Source
ISOLATED JOUBERT SYNDROME
475
AHI1 Unknown
22693042
Orphanet
ARL13B Unknown
18674751 20301500
Orphanet
ARL3 Unknown
30269812
Orphanet
ARMC9 Unknown
28625504
Orphanet
B9D1 Unknown
24886560
Orphanet
B9D2 Unknown
26092869
Orphanet
CBY1 Unknown
33131181
Orphanet
CEP104 Unknown
26477546
Orphanet
CEP120 Unknown
27208211
Orphanet
CEP41 Unknown
22246503
Orphanet
CPLANE1 Unknown
22425360 22693042
Orphanet
CSPP1 Unknown
24360803 24360808
Orphanet
HYLS1 Unknown
26830932
Orphanet
IFT74 Unknown
33531668
Orphanet
INPP5E Unknown
19668216
Orphanet
KATNIP Unknown
26714646
Orphanet
KIAA0586 Unknown
26096313
Orphanet
KIAA0753 Unknown
28220259
Orphanet
MKS1 Unknown
24886560
Orphanet
OFD1 Unknown
19800048
Orphanet
PDE6D Unknown
24166846
Orphanet
PIBF1 Unknown
26167768
Orphanet
SUFU Unknown
33024317
Orphanet
TCTN1 Unknown
20301500 21725307
Orphanet
TCTN2 Unknown
21565611
Orphanet
TCTN3 Unknown
22883145
Orphanet
TMEM218 Unknown
33791682
Orphanet
TMEM237 Unknown
22152675 22693042
Orphanet
TMEM67 Unknown
17160906
Orphanet
TOGARAM1 Unknown
32453716
Orphanet
JOUBERT SYNDROME
MONDO:0018772PS213300
AHI1 Causal
22693042
Disgenet
ARL13B Causal
17488627 18674751 23150559 25138100 26092869 27491411 27894351 29255182
ClinGen GWAS catalog
ARMC9 Causal
28625504
GWAS catalog
B9D1 Causal
24886560
GWAS catalog
CBY1 Causal
33131181
GWAS catalog
CPLANE1 Causal
22425360 22693042
ClinGen ClinVar
CSPP1 Causal
24360808 24360803
GWAS catalog
INPP5E Causal
19668216
GWAS catalog
KATNIP Causal
26714646
HPO
KIAA0586 Causal
26096313
GWAS catalog
MKS1 Causal
24886560
GWAS catalog
PIBF1 Causal
26167768
GWAS catalog
RPGRIP1L Causal — ClinVar
TCTN1 Causal
21725307 20301500
ClinGen
TCTN2 Causal
21565611
ClinVar GWAS catalog
TMEM237 Causal
22693042 22152675
ClinVar Disgenet
TMEM67 Causal
17160906
Disgenet
ARL3 Unknown
30269812
GWAS catalog
CEP104 Unknown
26477546
GWAS catalog
CEP120 Unknown
27208211
GWAS catalog