CA2base | Osteopetrosis with renal tubular acidosis | Mauno Vihinen | |
| | 259730 | CA2 | CA2 | CA2 | 155097 | 155097 | ENSG00000104267 | 6451 | P00918 | 760 | 760 | 0011 | | chr8:84900001-87200000&hgsid=95942992 |
CLCN7base | Autosomal dominant osteopetrosis, type 2 | Mauno Vihinen | |
| | 602727 | CLCN7 | CLCN7 | CLCN7 | 459649 | 459649 | ENSG00000103249 | 1921 | P51798 | 1186 | 1186 | 0021 | | chr16:1-6300000&hgsid=95942992 |
F12base | Hereditary angioedema type III | Mauno Vihinen | |
| | 610619 | F12 | F12 | F12 | 1321 | 1321 | ENSG00000131187 | 8241 | P00748 | 2161 | 2161 | 0119 | | chr5:176761747-176769183&hgsid=99566887&knownGene=pack&hgFind.matches=uc003mgo.1, | |
KinMutBase | Kinase mutation database | Mauno Vihinen and Csaba Ortutay | |
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OSTM1base | Autosomal recessive osteopetrosis | Mauno Vihinen | |
| | 607649 | OSTM1 | OSTM1 | OSTM1 | 226780 | 226780 | ENSG00000081087 | 9954 | Q86WC4 | 28962 | 28962 | 0065 | | chr6:104800001-113900000&hgsid=95942992 |
SH2base | Database for pathogenic SH2 domain variations | Mauno Vihinen | |
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PIK3R1base | Database for pathogenic variations in the p85α SH2 domain | Mauno Vihinen | |
| | 171833 | PIK3R1 | PIK3R1 | PIK3R1 | 132225 | 132225 | ENSG00000145675 | | P27986 | 5295 | 0005295 | | | chr5:67622384-67633405&hgsid=103273193&knownGene=pack&hgFind.matches=uc003jve.1, | |
PTPN11base | Database for pathogenic variations in the SHP-2 SH2 domain | Mauno Vihinen | |
| | 176876 | PTPN11 | PTPN11 | PTPN11 | 506852 | 506852 | ENSG00000179295 | | Q06124 | 5781 | 0005781 | | | chr12:111340919-111432100&hgsid=103273193&knownGene=pack&hgFind.matches=uc001ttx.1, | |
RASA1base | Database for pathogenic variations in the RasGAP SH2 domain | Mauno Vihinen | |
| | 139150 | RASA1 | RASA1 | RASA1 | 695926 | 695926 | ENSG00000145715 | | P20936 | 5921 | 0005921 | | | chr5:86600522-86723489&hgsid=103273193&knownGene=pack&hgFind.matches=uc003kix.1, | |
TCIRG1base | Autosomal recessive osteopetrosis (arOP) | Mauno Vihinen | FF157 |
| | 604592 | TCIRG1 | TCIRG1 | TCIRG1 | 495985 | TCIRG1 | ENSG00000110719 | 2601 | Q13488 | 10312 | 10312 | 0101 | | chr11:67563059-67574942&hgsid=99571580&knownGene=pack&hgFind.matches=uc001one.1, | |