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Entry Name Description Category Pathway Gene
H00530 Joubert syndrome and related disorders Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... Congenital malformation (JBTS1) INPP5E [HSA:56623] [KO:K20278]
(JBTS2) TMEM216 [HSA:51259] [KO:K19385]
(JBTS3) AHI1 [HSA:54806] [KO:K16740]
(JBTS4) NPHP1 [HSA:4867] [KO:K19657]
(JBTS5) CEP290 [HSA:80184] [KO:K16533]
(JBTS6) TMEM67 [HSA:91147] [KO:K19348]
(JBTS7) RPGRIP1L [HSA:23322] [KO:K16550]
(JBTS8) ARL13B [HSA:200894] [KO:K07962]
(JBTS9) CC2D2A [HSA:57545] [KO:K19352]
(JBTS10) OFD1 [HSA:8481] [KO:K16480]
(JBTS11) TTC21B [HSA:79809] [KO:K19673]
(JBTS12) KIF7 [HSA:374654] [KO:K18806]
(JBTS13) TCTN1 [HSA:79600] [KO:K19382]
(JBTS14) TMEM237 [HSA:65062] [KO:K22765]
(JBTS15) CEP41 [HSA:95681] [KO:K16455]
(JBTS16) TMEM138 [HSA:51524] [KO:K22867]
(JBTS17) CPLANE1 [HSA:65250] [KO:K22859]
(JBTS18) TCTN3 [HSA:26123] [KO:K19382]
(JBTS19) ZNF423 [HSA:23090] [KO:K22870]
(JBTS20) TMEM231 [HSA:79583] [KO:K19362]
(JBTS21) CSPP1 [HSA:79848] [KO:K16771]
(JBTS22) PDE6D [HSA:5147] [KO:K13758]
(JBTS23) JBTS23 [HSA:9786] [KO:K22865]
(JBTS24) TCTN2 [HSA:79867] [KO:K19361]
(JBTS25) CEP104 [HSA:9731] [KO:K16458]
(JBTS26) KATNIP [HSA:23247] [KO:K22858]
(JBTS27) B9D1 [HSA:27077] [KO:K16744]
(JBTS28) MKS1 [HSA:54903] [KO:K19332]
(JBTS29) TMEM107 [HSA:84314] [KO:K22764]
(JBTS30) ARMC9 [HSA:80210] [KO:K22864]
(JBTS31) CEP120 [HSA:153241] [KO:K16459]
(JBTS32) SUFU [HSA:51684] [KO:K06229]
(JBTS33) PIBF1 [HSA:10464] [KO:K16538]
(JBTS34) B9D2 [HSA:80776] [KO:K16745]
(JBTS35) ARL3 [HSA:403] [KO:K07944]
(JBTS36) FAM149B1 [HSA:317662] [KO:K24653]
(JBTS37) TOGARAM1 [HSA:23116] [KO:K24886]
(JBTS38) JBTS38 [HSA:9851] [KO:K21765]
(JBTS39) TMEM218 [HSA:219854] [KO:K26674]
(JBTS40) IFT74 [HSA:80173] [KO:K19679]
H00537 Nephronophthisis Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The ... Congenital malformation (NPHP1) NPHP1 [HSA:4867] [KO:K19657]
(NPHP2) INVS [HSA:27130] [KO:K19626]
(NPHP3) NPHP3 [HSA:27031] [KO:K19360]
(NPHP4) NPHP4 [HSA:261734] [KO:K16478]
(NPHP5) IQCB1 [HSA:9657] [KO:K16774]
(NPHP6) CEP290 [HSA:80184] [KO:K16533]
(NPHP7) GLIS2 [HSA:84662] [KO:K09233]
(NPHP9) NEK8 [HSA:284086] [KO:K20877]
(NPHP10) SDCCAG8 [HSA:10806] [KO:K16488]
(NPHP11) TMEM67 [HSA:91147] [KO:K19348]
(NPHP12) TTC21B [HSA:79809] [KO:K19673]
(NPHP13) WDR19 [HSA:57728] [KO:K19671]
(NPHP14) ZNF423 [HSA:23090] [KO:K22870]
(NPHP15) CEP164 [HSA:22897] [KO:K16462]
(NPHP16) ANKS6 [HSA:203286] [KO:K21415]
(NPHP18) CEP83 [HSA:51134] [KO:K16754]
(NPHP19) DCDC2 [HSA:51473] [KO:K23405]
(NPHP20) MAPKBP1 [HSA:23005] [KO:K21763]
(NPHPL1) XPNPEP3 [HSA:63929] [KO:K01262]
(NPHPL2) SLC41A1 [HSA:254428] [KO:K15122]
H00751 Asphyxiating thoracic dystrophy
Jeune syndrome 		Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and ... Congenital malformation (ATD2) IFT80 [HSA:57560] [KO:K19678]
(ATD3) DYNC2H1 [HSA:79659] [KO:K10414]
(ATD4) TTC21B [HSA:79809] [KO:K19673]
(ATD5) WDR19 [HSA:57728] [KO:K19671]
H02157 Short-rib thoracic dysplasia Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia ... Congenital malformation (SRTD2) IFT80 [HSA:57560] [KO:K19678]
(SRTD3) DYNC2H1 [HSA:79659] [KO:K10414]
(SRTD4) TTC21B [HSA:79809] [KO:K19673]
(SRTD5) WDR19 [HSA:57728] [KO:K19671]
(SRTD6) NEK1 [HSA:4750] [KO:K08857]
(SRTD7) WDR35 [HSA:57539] [KO:K19674]
(SRTD8) DYNC2I1 [HSA:55112] [KO:K22869]
(SRTD9) IFT140 [HSA:9742] [KO:K19672]
(SRTD10) IFT172 [HSA:26160] [KO:K19676]
(SRTD11) DYNC2I2 [HSA:89891] [KO:K22868]
(SRTD13) CEP120 [HSA:153241] [KO:K16459]
(SRTD14) JBTS23 [HSA:9786] [KO:K22865]
(SRTD15) DYNC2LI1 [HSA:51626] [KO:K10417]
(SRTD16) IFT52 [HSA:51098] [KO:K19681]
(SRTD17) DYNLT2B [HSA:255758] [KO:K22866]
(SRTD18) IFT43 [HSA:112752] [KO:K19675]
(SRTD19) IFT81 [HSA:28981] [KO:K19677]
(SRTD20) INTU [HSA:27152] [KO:K22862]
(SRTD21) JBTS38 [HSA:9851] [KO:K21765]
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