Joubert syndrome

Disease Term Disease ID Gene Symbol Classification References Source
JOUBERT SYNDROME
MONDO:0018772PS213300
CEP41 Unknown
22246503
CTD ClinVar
HYLS1 Unknown
26830932
GWAS catalog
SLC30A7 Unknown
35751429
GWAS catalog
SUFU Unknown — GenCC
TCTN3 Unknown — ClinVar
TMEM138 Unknown — ClinVar
TMEM231 Unknown — ClinVar
TTC21B Unknown — ClinVar
JOUBERT SYNDROME 1
C4551568213300MONDO:0008944
AHI1 Causal — Disgenet
CC2D2A Causal — Disgenet
CEP290 Causal — Disgenet
CPLANE1 Causal — Disgenet
INPP5E Causal
19668216
ClinGen ClinVar Disgenet HPO
MICALL2 Causal — Disgenet
SLC30A7 Causal — Disgenet
TMEM67 Causal — Disgenet
KATNIP Unknown — Disgenet
TCTN1 Unknown — Disgenet
TTC21B Unknown — Disgenet
JOUBERT SYNDROME 10
C2749019300804MESH:C567582MONDO:0010431
CC2D2A Causal — Disgenet
OFD1 Causal
16783569 22353940 19800048
CTD ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 12
C3277723
KIF7 Causal — Disgenet
JOUBERT SYNDROME 12/15, DIGENIC
C3280899
KIF7 Causal — Disgenet
CEP41 Unknown — Disgenet
JOUBERT SYNDROME 13
614173C3280031MONDO:0013608
TCTN1 Causal — ClinVar Disgenet GenCC HPO
JOUBERT SYNDROME 14
614424C3280766MONDO:0013745
TMEM237 Causal
14760273 22152675 17603801
ClinGen ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 15
614464C3280897MONDO:0013763
CEP41 Causal
22246503
ClinVar Disgenet HPO
JOUBERT SYNDROME 16
614465C3280906MONDO:0013764
TMEM138 Causal
22282472 26489029
ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 17
614615C3553264MONDO:0013824
CPLANE1 Causal — ClinGen ClinVar Disgenet GenCC HPO
JOUBERT SYNDROME 18
614815C3553758MONDO:0013896
TCTN3 Causal
22883145 25118024 2692869 27081510
ClinVar Disgenet HPO
JOUBERT SYNDROME 19
C3553846
ZNF423 Causal — Disgenet
JOUBERT SYNDROME 2
608091C1842577MESH:C536294MONDO:0011963
TMEM216 Causal
20036350 20512146
CTD ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 20
614970C3554235MONDO:0013994
TMEM231 Causal
23012439 23349226
ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 21
615636C3810212MONDO:0014288
CSPP1 Causal
24360808 25997910 24360803 24360807
ClinGen ClinVar Disgenet HPO
ARFGEF1 Unknown — Disgenet
JOUBERT SYNDROME 22
615665C3810278MONDO:0014297
PDE6D Causal
17496142 23150559 24166846
ClinVar Disgenet GenCC HPO
JOUBERT SYNDROME 23
616490C4084822MONDO:0014664
KIAA0586 Causal
26026149 26437029 26096313 26166481 26386044 30120217 32080096 36538006
ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 24
616654C4084841MONDO:0014724
TCTN2 Causal
21462283 21565611 21725307 25118024 32655147
ClinGen ClinVar Disgenet GWAS catalog HPO
LMOD3 Unknown — Disgenet
JOUBERT SYNDROME 25
616781C4084842MONDO:0014770
CEP104 Causal
26477546
ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 26
616784C4084843MONDO:0014771
KATNIP Causal
26714646 27245168
ClinVar Disgenet HPO
JOUBERT SYNDROME 27
617120C4310706MONDO:0014927
B9D1 Causal
21493627
ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 28
617121C4310705MONDO:0014928
MKS1 Causal
17397051 24886560 26490104 28497568
ClinVar Disgenet HPO
JOUBERT SYNDROME 29
C4539715
TMEM107 Causal — Disgenet
JOUBERT SYNDROME 3
608629C1837713MESH:C536295MONDO:0012078
AHI1 Causal — CTD ClinGen ClinVar Disgenet GenCC HPO
JOUBERT SYNDROME 30
617622C4539937MONDO:0033308
ARMC9 Causal
28625504
ClinGen ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 31
617761C4540355MONDO:0033310
CEP120 Causal
25251415 27208211 476410
CTD ClinVar Disgenet HPO
JOUBERT SYNDROME 32
617757C4540342MONDO:0033309
SUFU Causal
28965847
ClinVar Disgenet HPO
JOUBERT SYNDROME 33
617767C4540389MONDO:0033311
PIBF1 Causal
29695797 26167768
ClinVar Disgenet GWAS catalog HPO
JOUBERT SYNDROME 34
C4539386
B9D2 Causal — Disgenet