Table 1.

Cilia-associated human diseases and genes

Human Diseases	Genes
Alstrom syndrome	ALMS1
Asphyxiating thoracic dystrophy	IFT80, DYNC2H1, TTC21B, WDR19
Bardet-Biedl syndrome	BBS1-15
Joubert syndrome	TMEM67, 138, 216, 231, 237; CC2D2A, ARL13B, NPHP1, NPHP6/CEP290, INPP5E, AHI1, RPGRIP1L, CXORF5, TTC21B, KIF7, TCTN1, CEP41
Kartegener syndrome	DNAI1, DNAH11, DNAH5
Meckel-Gruber syndrome	TMEM67, 216; CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, 2; MKS1
Nephrononphthisis	NPHP1-13, NEK8, GLIS2
Orofaciodigital syndrome 1	OFD1
Polycystic kidney disease	PKD1, PKD2, PKHD1
Primary ciliary dyskinesis	DNAI1, 2; DNAH5, TXNDC3, DNAH11, KTU, RSPH4A, 9, LRRC50, CCDC39, 40, 103; DNAAF3,
Senior-Loken syndrome	NPHP1, 4, 5, 6; SDCCAG8
Sensenbrenner syndrome	IFT122, IFT43, WDR19, 35
Short-rib polydactyly syndrome	NEK1, DYNC2H1, WDR35
Tuberous sclerosis	TSC1, TSC2
von Hippel-Lindau disease	VHL
Diabetes
Hypertension
Kidney injury
Obesity