Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 153020
Gene Symbol: RASGEF1B
RASGEF1B 		Q0VAM2 RasGEF domain family member 1B Enzyme modulator 9 0.821 0.154 0.92 0.010 None 1.000 1 0 2017 2017
Entrez Id: 81614
Gene Symbol: NIPA2
NIPA2 		Q8N8Q9 NIPA magnesium transporter 2 Transporter 10 0.805 0.192 0.92 0.010 None 1.000 1 0 2004 2004
Entrez Id: 114791
Gene Symbol: TUBGCP5
TUBGCP5 		Q96RT8 tubulin gamma complex associated protein 5 Cellular structure 13 0.769 0.346 1.2E-12 0.010 None 1.000 1 0 2004 2004
Entrez Id: 25759
Gene Symbol: SHC2
SHC2 		P98077 SHC adaptor protein 2 Signaling 20 0.729 0.385 2.1E-14 0.010 None 1.000 1 0 2013 2013
Entrez Id: 51733
Gene Symbol: UPB1
UPB1 		Q9UBR1 beta-ureidopropionase 1 Enzyme 21 0.722 0.346 7.4E-12 0.100 None 0 0
Entrez Id: 225
Gene Symbol: ABCD2
ABCD2 		Q9UBJ2 ATP binding cassette subfamily D member 2 Transporter 25 0.711 0.500 4.7E-06 0.010 None 1.000 1 0 2017 2017
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP 		O94903 pyridoxal phosphate binding protein 31 0.736 0.231 4.0E-02 0.100 None 0 0
Entrez Id: 4434
Gene Symbol: MSD
MSD 		microcephaly with spastic diplegia (Paine syndrome) 35 0.674 0.654 0.010 None 1.000 1 0 2019 2019
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1 		A8MTZ0 BBSome interacting protein 1 37 0.695 0.423 4.2E-03 0.100 None 0 0
Entrez Id: 4126
Gene Symbol: MANBA
MANBA 		O00462 mannosidase beta Enzyme 38 0.736 0.462 1.3E-18 0.100 None 0 0
Entrez Id: 6945
Gene Symbol: MLX
MLX 		Q9UH92 MAX dimerization protein MLX 40 0.722 0.346 0.11 0.100 None 0 0
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2 		Q96SN8 CDK5 regulatory subunit associated protein 2 42 0.682 0.577 4.6E-23 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		Q12951 forkhead box I1 Transcription factor 42 0.686 0.462 0.77 0.100 None 0 0
Entrez Id: 11020
Gene Symbol: IFT27
IFT27 		Q9BW83 intraflagellar transport 27 45 0.670 0.462 5.9E-06 0.100 None 0 0
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1 		Q96JM3 chromosome alignment maintaining phosphoprotein 1 46 0.691 0.500 0.99 0.010 None 1.000 1 0 2015 2015
Entrez Id: 22907
Gene Symbol: DHX30
DHX30 		Q7L2E3 DExH-box helicase 30 Enzyme 47 0.722 0.500 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54476
Gene Symbol: RNF216
RNF216 		Q9NWF9 ring finger protein 216 47 0.670 0.615 2.3E-06 0.100 None 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7 		Q8IWZ6 Bardet-Biedl syndrome 7 47 0.682 0.462 7.1E-09 0.100 None 0 0
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.100 None 0 0
Entrez Id: 219285
Gene Symbol: SAMD9L
SAMD9L 		Q8IVG5 sterile alpha motif domain containing 9 like 49 0.700 0.500 5.6E-15 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7 		O75027 ATP binding cassette subfamily B member 7 Transporter 49 0.678 0.385 1.00 0.100 None 0 0
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.010 None 1.000 1 0 2003 2003
Entrez Id: 2895
Gene Symbol: GRID2
GRID2 		O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 50 0.670 0.500 1.00 0.100 None 0 0
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		Q8N3I7 Bardet-Biedl syndrome 5 51 0.659 0.577 4.8E-06 0.100 None 0 0
Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9 		Q9Y397 zinc finger DHHC-type palmitoyltransferase 9 52 0.670 0.577 0.74 0.100 None 0 0