Citations for
1AAMR, GMPPA
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA.
Am J Hum Genet 93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. 2013
2AARSD1, ACSM2A, ACTL8, ADAD2, ADAM6, AGAP9, AHCTF1P, ALDH1L2, AMER1, AMN1, ANGEL2, ANKFN1, ANKHD1, ANKIB1, ANKMY2, ANKRD10, ANKRD18A, ANKRD19, ANKRD26, ANKRD27, ANKRD31, ANKRD33, ANKRD34A, ANKRD34C, ANKRD35, ANKRD50, ANKS6, ARMC5, ATAD2B, ATP5SL, ATP5Sl, BTBD11, C10orf139, C10orf31, C11orf37, C11orf39, C11orf44, C11orf55, C12orf27, C12orf35, C12orf40, C12orf47, C12orf50, C12orf55, C14orf105, C14orf180, C14orf181, C14orf70, C15orf28, C15orf37, C15orf53, C15orf54, C15orf56, C16orf13, C16orf59, C16orf68, C16orf81, C17orf47, C17orf53, C17orf55, C17orf56, C17orf65, C17orf66, C17orf69, C17orf72, C17orf76, C17orf77, C17orf78, C18orf15, C18orf26, C18orf33, C18orf62, C19orf46, C1orf112, C1orf125, C1orf127, C1orf131, C1orf132, C1orf62, C1orf83, C1orf92, C1orf96, C20orf152, C20orf175, C20orf200, C20orf46, C21orf125, C21orf130, C22orf37, C2orf54, C2orf61, C2orf67, C3orf30, C3orf41, C3orf44, C3orf56, C4orf21, C4orf30, C4orf32, C4orf35, C5orf17, C5orf30, C5orf34, C6orf103, C6orf140, C6orf147, C6orf214, C7orf40, C7orf42, C7orf52, C8orf31, C8orf34, C8orf47, C9orf106, C9orf139, C9orf66, C9orf73, C9orf97, CALML4, CBR4, CC2D2A, CCDC114, CCDC115, CCDC121, CCDC128, CCDC129, CCDC138, CCDC140, CCDC141, CCDC144B, CCDC148, CCDC43, CCDC57, CCDC63, CCDC65, CCDC69, CCDC83, CCDC87, CCDC93, CCDC97, CCNJ, CCNJL, CCT6AP1, CDC20B, CEP164, CEP170B, CKAP2L, CLEC4GP1, CNTD2, CNTNAP5, COA1, CROCCL1, CROCCL2, CXorf18, CXorf25, CXorf55, CXorf62, CYP4V2, DCAF17, DDX60, DEF8, DEPDC1B, DEPDC4, DHRS12, DIS3L, DNAAF3, DNHD1, DNHD1L, DNHL1, DTWD2, DUSP27, DZIP1L, ECHDC2, EHBP1L1, EOGT, EP400NL, FADS6, FAM108C1, FAM133A, FAM134A, FAM139A, FAM149A, FAM149B1, FAM153C, FAM173B, FAM182A, FAM21A, FAM21C, FAM45A, FAM66A, FAM66B, FAM66C, FAM66D, FAM66E, FAM71D, FAM73A, FAM75C1, FAM78A, FAM87B, FAM90A1, FAM98A, FAM98B, FAM98C, FLAD1, FSD2, GAB4, GARIN1B, GARNL3, GAS2L3, GK5, GLYATL1, GMPPA, GOLGA9P, GSTCD, H2BFM, HDX, HECTD2, HFM1, IFTAP, IGSF22, IGSF5, ISLR2, KANK2, KANK3, KANK4, KCTD19, KIAA0913, KIAA1324L, KIF24, KLHDC7A, KLHL26, L3MBTL4, LARP6, LBA1, LIME1, LINC00299, LOXHD1, LRRC36, LRRC37A4, MARCH9, MIB2, MOBKL1B, MOBKL2A, MOBKL2B, MOBKL2C, MORC4, MTURN, MYH15, N6AMT1, NAA30, NAG8, NDUFAF5, NKAIN3, NOXIN, NUBPL, OTOGL, OTOGL, PDZK1P1, PHF20L1, PIANP, PID1, PLCH1, POLR3D, PROX2, PRR10, RANBP6, RETREG3, RFPL4B, RIPPLY2, RITA1, SCIMP, SDE2, SETD4, SFXN4, SIRPD, SLC10A5, SLC25A29, SLC35E1, SLC35F1, SLC35F3, SLC38A10, SLC38A11, SLC38A7, SMAGP, SMG8, SMYD4, SNHG10, SNHG11, SNX30, STAG3L1, SWSAP1, TANC2, TBRG4, TDRD7, TERB1, TMEM105, TMEM151B, TMEM222, TPD52L3, TRMT2B, TSGA10IP, TTC29, UAP1L1, VPS35L, WDR63, WDR90, WDTC1, ZBTB46, ZIK1, ZMAT1, ZMAT2, ZNF12, ZNF321, ZNF347, ZNF430, ZNF433, ZNF441, ZNF442, ZNF483, ZNF526, ZNF527, ZNF569, ZNF600, ZNF615, ZNF619, ZNF620, ZNF662, ZNFX1, ZYG11B, ZZZ3
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S.
Nat Genet 36(1):40-5. Epub 2003 Dec 21. 2004