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: 100529229
Gene Symbol: FAME3
FAME3 		Epilepsy, familial adult myoclonic, 3 5 0.890 0.077 0.010 None 1.000 1 0 2007 2007
Entrez Id: 100528021
Gene Symbol: ST20-MTHFS
ST20-MTHFS 		ST20-MTHFS readthrough 18 0.805 0.115 7.6E-03 0.100 None 0 2
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A 		Q6IQ26 DENN domain containing 5A 20 0.821 0.115 5.8E-02 0.100 None 0 0
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 43 0.711 0.154 0.99 0.120 None 1.000 2 1 2018 2019
Entrez Id: 60558
Gene Symbol: GUF1
GUF1 		Q8N442 GUF1 homolog, GTPase Enzyme 13 0.805 0.154 5.3E-18 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		Q8NHS3 major facilitator superfamily domain containing 8 50 0.682 0.231 2.5E-12 0.010 None 1.000 1 0 2016 2016
Entrez Id: 339453
Gene Symbol: TMEM240
TMEM240 		Q5SV17 transmembrane protein 240 40 0.760 0.231 0.23 0.010 None 1.000 1 1 2019 2019
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: 114327
Gene Symbol: EFHC1
EFHC1 		Q5JVL4 EF-hand domain containing 1 52 0.659 0.231 1.9E-17 0.100 None 0 0
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L 		Q9P0K9 ferric chelate reductase 1 like 60 0.666 0.231 1.5E-03 0.100 None 0 0
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		Q9NWW5 CLN6 transmembrane ER protein 59 0.670 0.231 1.0E-04 0.100 None 0 0
Entrez Id: 10695
Gene Symbol: CNPY3
CNPY3 		Q9BT09 canopy FGF signaling regulator 3 12 0.805 0.269 0.40 0.100 None 0 0
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		O75503 CLN5 intracellular trafficking protein 43 0.705 0.269 1.7E-08 0.100 None 0 0
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		Q14353 guanidinoacetate N-methyltransferase 62 0.691 0.269 9.5E-03 0.100 None 0 0
Entrez Id: 401474
Gene Symbol: SAMD12
SAMD12 		Q8N8I0 sterile alpha motif domain containing 12 36 0.700 0.269 1.2E-03 0.100 None 0 0
Entrez Id: 132158
Gene Symbol: GLYCTK
GLYCTK 		Q8IVS8 glycerate kinase Kinase 23 0.751 0.308 9.7E-11 0.100 None 0 0
Entrez Id: 2743
Gene Symbol: GLRB
GLRB 		P48167 glycine receptor beta Ion channel 39 0.705 0.308 1.4E-03 0.100 None 0 0
Entrez Id: 79734
Gene Symbol: KCTD17
KCTD17 		Q8N5Z5 potassium channel tetramerization domain containing 17 22 0.743 0.308 1.8E-02 0.100 None 0 0
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46 		Q96AG3 solute carrier family 25 member 46 Transporter 46 0.695 0.308 1.3E-05 0.100 None 0 0
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1 		Q8NC96 NECAP endocytosis associated 1 55 0.691 0.346 0.13 0.100 None 0 0
Entrez Id: 55187
Gene Symbol: VPS13D
VPS13D 		Q5THJ4 vacuolar protein sorting 13 homolog D 33 0.769 0.346 1.1E-06 0.100 None 0 0
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2 		Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 60 0.691 0.346 0.77 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		O43299 adaptor related protein complex 5 subunit zeta 1 47 0.700 0.346 7.3E-31 0.100 None 0 0
Entrez Id: 10299
Gene Symbol: MARCHF6
MARCHF6 		O60337 membrane associated ring-CH-type finger 6 Enzyme 22 0.722 0.385 1.00 0.010 None 1.000 1 0 2007 2007
Entrez Id: 344875
Gene Symbol: COL6A4P1
COL6A4P1 		collagen type VI alpha 4 pseudogene 1 21 0.711 0.385 0.010 None 1.000 1 0 2007 2007