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: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.630 None 1.000 3 0 2002 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.440 None 1.000 3 0 2006 2019
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.430 None 1.000 3 0 2006 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.430 None 1.000 2 0 2008 2019
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.420 None 1.000 2 0 2007 2015
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.420 None 1.000 1 0 2013 2019
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.410 None 1.000 1 0 2011 2016
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
tectonic family member 2 0.578 0.654 1.8E-14
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.410 None 1.000 1 0 2011 2011
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.400 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 None 1.000 2 0 2010 2011
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
WD repeat containing planar cell polarity effector 0.576 0.769 1.1E-10
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
centrosomal protein 55 0.534 0.731 2.0E-12
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
B9 domain containing 2 0.606 0.577 5.3E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107
transmembrane protein 107 0.592 0.692 3.1E-08
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease 0.300 None 0 0