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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
Entrez Id: 101928376
Gene Symbol: IL12A-AS1
IL12A-AS1
IL12A antisense RNA 1 99 0.633 0.654 0.100 None 0 0
Entrez Id: 3492
Gene Symbol: IGH
IGH
immunoglobulin heavy locus 238 0.473 0.654 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 296 0.471 0.846 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.100 None 0 0
Entrez Id: 54790
Gene Symbol: TET2
TET2
Q6N021 tet methylcytosine dioxygenase 2 362 0.458 0.808 4.3E-54 0.100 None 0 0
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.100 None 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM
Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.100 None 0 0
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
Q9HC29 nucleotide binding oligomerization domain containing 2 Enzyme 434 0.423 0.923 2.0E-30 0.100 None 0 0
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 0.100 None 0 0
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
Q6PGP7 tetratricopeptide repeat domain 37 91 0.626 0.654 1.7E-29 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
Entrez Id: 6787
Gene Symbol: NEK4
NEK4
P51957 NIMA related kinase 4 Kinase 21 0.751 0.192 8.7E-27 0.100 None 0 1
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
Q9NZ08 endoplasmic reticulum aminopeptidase 1 Enzyme 156 0.556 0.692 2.1E-26 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
Q15477 Ski2 like RNA helicase 96 0.615 0.654 1.3E-22 0.100 None 0 0
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.100 None 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 257 0.507 0.808 5.2E-22 0.100 None 0 0
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
Q96RL7 vacuolar protein sorting 13 homolog A 104 0.650 0.577 9.3E-22 0.100 None 0 0
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
Q9H222 ATP binding cassette subfamily G member 5 Transporter 108 0.592 0.577 3.1E-21 0.100 None 0 0