Gene Directory
250 genes with known genetic variants in our database.
All
Chr 1(621)
Chr 2(446)
Chr 3(370)
Chr 4(242)
Chr 5(266)
Chr 6(311)
Chr 7(286)
Chr 8(216)
Chr 9(250)
Chr 10(250)
Chr 11(386)
Chr 12(324)
Chr 13(111)
Chr 14(198)
Chr 15(221)
Chr 16(276)
Chr 17(359)
Chr 18(87)
Chr 19(346)
Chr 20(177)
Chr 21(71)
Chr 22(147)
Chr X(397)
Chr Y(4)
PTCH1
patched 1
TSC1
TSC complex subunit 1
NOTCH1
notch receptor 1
COL5A1
collagen type V alpha 1 chain
ENG
endoglin
GLDC
glycine decarboxylase
SETX
senataxin
VPS13A
vacuolar protein sorting 13 homolog A
FANCC
FA complementation group C
STXBP1
syntaxin binding protein 1
EHMT1
euchromatic histone lysine methyltransferase 1
ELP1
elongator acetyltransferase complex subunit 1
GALT
galactose-1-phosphate uridylyltransferase
SPTAN1
spectrin alpha, non-erythrocytic 1
CDKN2A
cyclin dependent kinase inhibitor 2A
POMT1
protein O-mannosyltransferase 1
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
FKTN
fukutin
ASS1
argininosuccinate synthase 1
KCNT1
potassium sodium-activated channel subfamily T member 1
FANCG
FA complementation group G
RMRP
RNA component of mitochondrial RNA processing endoribonuclease
ABCA1
ATP binding cassette subfamily A member 1
DOCK8
dedicator of cytokinesis 8
COL27A1
collagen type XXVII alpha 1 chain
ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13
GRHPR
glyoxylate and hydroxypyruvate reductase
SURF1
SURF1 cytochrome c oxidase assembly factor
DNAI1
dynein axonemal intermediate chain 1
TGFBR1
transforming growth factor beta receptor 1
LAMC3
laminin subunit gamma 3
GRIN1
glutamate ionotropic receptor NMDA type subunit 1
MPDZ
multiple PDZ domain crumbs cell polarity complex component
INVS
inversin
SMARCA2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
TJP2
tight junction protein 2
TMC1
transmembrane channel like 1
ALDOB
aldolase, fructose-bisphosphate B
ROR2
receptor tyrosine kinase like orphan receptor 2
GLE1
GLE1 RNA export mediator
LMX1B
LIM homeobox transcription factor 1 beta
LRSAM1
leucine rich repeat and sterile alpha motif containing 1
SLC34A3
solute carrier family 34 member 3
CDK5RAP2
CDK5 regulatory subunit associated protein 2
INPP5E
inositol polyphosphate-5-phosphatase E
KCNV2
potassium voltage-gated channel modifier subfamily V member 2
FREM1
FRAS1 related extracellular matrix 1
NPR2
natriuretic peptide receptor 2
MUSK
muscle associated receptor tyrosine kinase
NR5A1
nuclear receptor subfamily 5 group A member 1
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