Genes

Gene full name Gene Ensembl
Aspartylglucosaminidase AGA AGA 30 ENSG00000038002
Autoimmune regulator AIRE AIRE 86 ENSG00000160224
Amnionless homolog AMN AMN 8 ENSG00000166126
Aminomethyltransferase AMT AMT 23 ENSG00000145020
BC1 (ubiquinol-cytochrome c reductase) synthesis-like BCS1L BCS1L 6 ENSG00000074582
Chromosome 10 open reading frame 2 C10orf2 C10orf2 1 ENSG00000107815
Coiled-coil and C2 domains-containing protein 2A CC2D2A CC2D2A 18 ENSG00000048342
Centrosomal protein, 290-KD CEP290 CEP290 15 ENSG00000198707
Ceroid-lipofuscinosis, neuronal 3 CLN3 CLN3 26 ENSG00000188603
Ceroid-lipofuscinosis, neuronal 5 CLN5 CLN5 23 ENSG00000102805
Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) CLN8 CLN8 1 ENSG00000182372
Vacuolar protein sorting 13 homolog B (yeast) VPS13B (COH1) VPS13B (COH1) 111 ENSG00000132549
Cystatin B CSTB CSTB 10 ENSG00000160213
Cubilin CUBN CUBN 8 ENSG00000107611
TYRO protein tyrosine kinase binding protein (DAP12) TYROBP (DAP12) DAP12 8 ENSG00000011600
Follicle stimulating hormone receptor FSHR FSHR 10 ENSG00000170820
Glycine cleavage system H protein GCSH GCSH 4 ENSG00000140905
Glycine decarboxylase GLDC GLDC 112 ENSG00000178445
GLE1 RNA export mediator homolog (yeast) GLE1 GLE1 4 ENSG00000119392
Gelsolin GSN GSN 2 ENSG00000148180
Hydrolethalus syndrome protein 1 HYLS1 HYLS1 1 ENSG00000198331
Keratocan KERA KERA 6 ENSG00000139330
Lactase LCT LCT 9 ENSG00000115850
Meckel syndrome, type 1 MKS1 MKS1 18 ENSG00000011143
Nephrosis 1, congenital, Finnish type (nephrin) NPHS1 NPHS1 119 ENSG00000161270
Ornithine aminotransferase OAT OAT 55 ENSG00000065154
Protein O-linked mannose beta-1,2-N-acetylglucosaminyltransferase POMGNT1 POMGNT1 41 ENSG00000085998
Palmitoyl-protein thioesterase 1 PPT1 PPT1 49 ENSG00000131238
RecQ protein-like 4 RECQL4 RECQL4 11 ENSG00000160957
Choroideremia (Rab escort protein 1) CHM CHM 132 ENSG00000188419
Ribonuclease mitochondrial RNA processing RMRP RMRP 96 ENSG00000199916
Retinoschisin 1 RS1 RS1 176 ENSG00000102104
Solute carrier family 17 (anion/sugar transporter), member 5 SLC17A5 SLC17A5 14 ENSG00000119899
Solute carrier family 26, member 2 SLC26A2 SLC26A2 29 ENSG00000155850
Solute carrier family 26, member 3 SLC26A3 SLC26A3 31 ENSG00000091138
Soluble carrier family 7 (amino acid transporter light chain, y+L system), member 7 SLC7A7 SLC7A7 54 ENSG00000155465
Triggering receptor expressed on myeloid cells 2 TREM2 TREM2 11 ENSG00000095970
Tripartite motif-containing 37 TRIM37 TRIM37 14 ENSG00000108395
Titin TTN TTN 7 ENSG00000155657
Clarin 1 CLRN1 CLRN1 11 ENSG00000163646


FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.