Meckel syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Meckel syndrome 564 B9D1 Causal Pathogenic evidence from ClinVar - ClinVar
B9D2 Causal Pathogenic evidence from ClinVar - ClinVar
CC2D2A Causal Pathogenic evidence from ClinVar - ClinVar
CEP290 Causal Pathogenic evidence from ClinVar - ClinVar
MKS1 Causal Pathogenic evidence from ClinVar - ClinVar
RPGRIP1L Causal Pathogenic evidence from ClinVar - ClinVar
TCTN2 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM107 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM216 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM231 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM67 Causal Pathogenic evidence from ClinVar - ClinVar
CEP55 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CSPP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RPGRIP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WDPCP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Meckel syndrome type 1 C3714506 B9D1 Causal Pathogenic evidence from ClinVar 21493627, 24886560, 25920555 ClinVar
B9D2 Causal Pathogenic evidence from ClinVar 21763481, 26092869 ClinVar
CC2D2A Causal Pathogenic evidence from ClinVar 19777577 ClinVar
CEP290 Causal Pathogenic evidence from ClinVar 18327255, 20690115 ClinVar
MKS1 Causal Pathogenic evidence from ClinVar 4886560, 16415886, 17377820, 17397051, 17437276, 19466712, 21228398, 23454480, 24643152, 24886560, 26092869, 26490104, 27570071 ClinVar
RPGRIP1L Causal Pathogenic evidence from ClinVar 19574260 ClinVar
TCTN2 Causal Pathogenic evidence from ClinVar 21565611, 25118024 ClinVar
TMEM107 Causal Pathogenic evidence from ClinVar 24901346 ClinVar
TMEM216 Causal Pathogenic evidence from ClinVar 20036350, 20512146 ClinVar
TMEM231 Causal Pathogenic evidence from ClinVar 23012439, 23349226 ClinVar
TMEM67 Causal Pathogenic evidence from ClinVar 16415887, 18327255, 19508969, 20607301 ClinVar
TXNDC15 Causal Pathogenic evidence from ClinVar 27894351 ClinVar
CSPP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24360803, 24360807, 24360808 -
HYLS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIF14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LPO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16415886, 17397051 -
NPHP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RPGRIP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WDPCP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20671153 -
MECKEL SYNDROME, TYPE 9 C3280155 B9D1 Causal Pathogenic evidence from ClinVar 21493627, 24886560, 25920555 ClinVar
MECKEL SYNDROME, TYPE 10 C3280036 B9D2 Causal Pathogenic evidence from ClinVar 21763481, 26092869 ClinVar
MECKEL SYNDROME, TYPE 6 (disorder) C2676790 CC2D2A Causal Pathogenic evidence from ClinVar 18513680, 18950740, 19466712, 19574260, 19777577, 22246503, 23351400, 24706459, 27959436 ClinVar
MECKEL SYNDROME, TYPE 4 C1970161 CEP290 Causal Pathogenic evidence from ClinVar 16909394, 17345604, 17564974, 18327255, 20690115, 30055837 ClinVar
MECKEL SYNDROME, TYPE 5 C1969052 RPGRIP1L Causal Pathogenic evidence from ClinVar 17558407, 17558409, 19430481, 19574260 ClinVar
MECKEL SYNDROME, TYPE 8 C3836857 TCTN2 Causal Pathogenic evidence from ClinVar 21462283, 25118024 ClinVar
MECKEL SYNDROME 13 C4539714 TMEM107 Causal Pathogenic evidence from ClinVar 26123494, 26518474, 26595381 ClinVar
MECKEL SYNDROME, TYPE 2 C1864148 TMEM216 Causal Pathogenic evidence from ClinVar 20036350, 20512146, 22282472, 23351400 ClinVar
MECKEL SYNDROME, TYPE 11 C3809352 TMEM231 Causal Pathogenic evidence from ClinVar 23012439, 23349226, 25869670, 27449316 ClinVar
Meckel syndrome type 3 C1846357 TMEM67 Causal Pathogenic evidence from ClinVar 613550, 16415887, 17185389, 17377820, 17397051, 18327255, 19058225, 19466712, 19508969, 20232449, 20607301, 26191240 ClinVar
Renal hepatic pancreatic dysplasia Dandy Walker cyst C2673885 CEP55 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28295209 -
NPHP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12872122, 18371931 -
NPHP3-ACAD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MECKEL SYNDROME 12 C4015701 KIF14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24128419, 30388224 -