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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4535
Gene Symbol: ND1
ND1 		P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 260 0.522 0.769 0.100 None 0 0
Entrez Id: 4536
Gene Symbol: ND2
ND2 		P03891 MTND2 130 0.601 0.615 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		P03897 NADH dehydrogenase, subunit 3 (complex I) 113 0.604 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: 7467
Gene Symbol: WHCR
WHCR 		Wolf-Hirschhorn syndrome chromosome region 78 0.638 0.577 0.100 None 0 0
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		Q8N653 leucine zipper like transcription regulator 1 152 0.547 0.808 1.0E-92 0.100 None 0 1
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		O15360 FA complementation group A 211 0.505 0.731 1.6E-68 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		Q6DN12 multiple C2 and transmembrane domain containing 2 71 0.623 0.577 6.0E-52 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: 157680
Gene Symbol: VPS13B
VPS13B 		Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 1
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1 		Q7Z4N2 transient receptor potential cation channel subfamily M member 1 Ion channel 62 0.626 0.462 1.6E-42 0.110 None 1.000 1 0 2018 2018
Entrez Id: 4703
Gene Symbol: NEB
NEB 		P20929 nebulin 148 0.608 0.692 4.6E-41 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8777
Gene Symbol: MPDZ
MPDZ 		O75970 multiple PDZ domain crumbs cell polarity complex component 71 0.638 0.500 5.8E-38 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		Q9NVI1 FA complementation group I 147 0.543 0.731 8.9E-37 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		O94761 RecQ like helicase 4 Enzyme 249 0.496 0.808 3.3E-35 0.100 None 0 0
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		Q86UK5 EvC ciliary complex subunit 2 106 0.585 0.692 1.0E-34 0.100 None 0 0
Entrez Id: 93589
Gene Symbol: CACNA2D4
CACNA2D4 		Q7Z3S7 calcium voltage-gated channel auxiliary subunit alpha2delta 4 Ion channel 33 0.716 0.269 1.5E-34 0.100 None 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		A8K2U0 alpha-2-macroglobulin like 1 Enzyme modulator 94 0.590 0.692 1.6E-34 0.100 None 0 0
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		P25391 laminin subunit alpha 1 107 0.582 0.808 3.2E-32 0.100 None 0 0
Entrez Id: 7299
Gene Symbol: TYR
TYR 		P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.100 None 0 2