Human | SUMF1 | 285362 | sulfatase modifying factor 1 | |
Human | ARX | 170302 | aristaless related homeobox | Disorders caused by mutations in the ARX gene include: hydrocephaly, lissencephaly and agenesis of corpus callosum with abnormal genitalia, Partington syndrome S), X-linked infantile spasms , myoclonic epilepsy, and nonspecific mental retardation |
Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | |
Human | EVC2 | 132884 | Ellis van Creveld syndrome 2 | INFERRED, Score=800, UMLKSK CUI: C0020255 |
Human | ZIC4 | 84107 | Zic family member 4 | INFERRED, Score=800, UMLKSK CUI: C0020255 |
Human | VANGL1 | 81839 | VANGL planar cell polarity protein 1 | |
Human | FKRP | 79147 | fukutin related protein | |
Human | PORCN | 64840 | porcupine homolog (Drosophila) | |
Human | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
Human | MKS1 | 54903 | Meckel syndrome, type 1 | |
Human | POMT2 | 29954 | protein-O-mannosyltransferase 2 | |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | |
Human | SLC17A5 | 26503 | solute carrier family 17 (acidic sugar transporter), member 5 | |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | |
Human | EBP | 10682 | emopamil binding protein (sterol isomerase) | INFERRED, Score=800, UMLKSK CUI: C0020255 |
Human | POMT1 | 10585 | protein-O-mannosyltransferase 1 | |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | |
Human | CD96 | 10225 | CD96 molecule | INFERRED, Score=800, UMLKSK CUI: C0020255 |
Human | LARGE | 9215 | like-glycosyltransferase | |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | |
Human | WNT3 | 7473 | wingless-type MMTV integration site family, member 3 | |
Human | WHSC1 | 7468 | Wolf-Hirschhorn syndrome candidate 1 | |
Human | TGFBR2 | 7048 | transforming growth factor, beta receptor II (70/80kDa) | |
Human | TGFBR1 | 7046 | transforming growth factor, beta receptor 1 | |
Human | T | 6862 | T, brachyury homolog (mouse) | |