Human | BDA1B | 246260 | Brachydactyly, type A1, locus B | Clinodactyly (2nd, 3rd, 4th fingers) |
Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | |
Human | MKS1 | 54903 | Meckel syndrome, type 1 | |
Human | RAB23 | 51715 | RAB23, member RAS oncogene family | |
Human | CLCF1 | 23529 | cardiotrophin-like cytokine factor 1 | |
Human | CD96 | 10225 | CD96 molecule | |
Human | ALG3 | 10195 | ALG3, alpha-1,3- mannosyltransferase | |
Human | PQBP1 | 10084 | polyglutamine binding protein 1 | Clinodactyly of fifth digit (rare) |
Human | CUL7 | 9820 | cullin 7 | |
Human | CRLF1 | 9244 | cytokine receptor-like factor 1 | |
Human | NOG | 9241 | noggin | |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | |
Human | YWHAE | 7531 | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide | |
Human | WNT7A | 7476 | wingless-type MMTV integration site family, member 7A | Clinodactyly (4th and 5th fingers) |
Human | TFAP2A | 7020 | transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) | |
Human | ABCC8 | 6833 | ATP-binding cassette, sub-family C (CFTR/MRP), member 8 | |
Human | SNRPN | 6638 | small nuclear ribonucleoprotein polypeptide N | |
Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | |
Human | PTH1R | 5745 | parathyroid hormone 1 receptor | |
Human | MAP2K2 | 5605 | mitogen-activated protein kinase kinase 2 | |
Human | PAFAH1B1 | 5048 | platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) | |
Human | ROR2 | 4920 | receptor tyrosine kinase-like orphan receptor 2 | |
Human | NDN | 4692 | necdin, melanoma antigen (MAGE) family member | |
Human | KCNJ11 | 3767 | potassium inwardly-rectifying channel, subfamily J, member 11 | |