Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.546 0.724 1.8E-54
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.440 1.000 0 0 2006 2017
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Meckel syndrome, type 1 0.546 0.690 4.6E-16
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.430 1.000 0 0 2007 2017
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.569 0.655 6.5E-31
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.420 1.000 0 0 2008 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.559 0.621 2.6E-26
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.420 1.000 0 0 2008 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.559 0.655 1.9E-23
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.420 1.000 0 0 2002 2018
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.630 0.586 5.2E-25
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.410 1.000 0 0 2014 2015
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.611 0.552 8.6E-07
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.410 1.000 0 0 2013 2015
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
tectonic family member 2 0.630 0.517 6.8E-14
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.310 1.000 0 0 2011 2011
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.633 0.586 2.9E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.310 1.000 0 0 2016 2016
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
WD repeat containing planar cell polarity effector 0.633 0.621 3.4E-10
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 0 0
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.567 0.448 3.4E-20
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 0 0
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
centrosomal protein 55 0.636 0.414 1.4E-12
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 0 0
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
B9 domain containing 2 0.663 0.448 5.6E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 0 0
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107
transmembrane protein 107 0.663 0.414 3.0E-08
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.582 0.552 1.9E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 0 0