Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY	C4551856	ABCG5	Unknown	—	Disgenet
		DYNC2LI1	Unknown	—	Disgenet
		IFT140	Unknown	—	Disgenet
		NEK1	Unknown	—	Disgenet
		TTC21B	Unknown	—	Disgenet
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY	615630 C3810175 MONDO:0014284	IFT172	Causal	24140113 25168386	CTD ClinVar Disgenet HPO
		IFT80	Unknown	—	Disgenet
		KRTCAP3	Unknown	—	Disgenet
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY	615633 C3810200 MONDO:0014287	DYNC2I2	Causal	24183449	ClinGen ClinVar Disgenet GWAS catalog HPO
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY	615633 C3810200 MONDO:0014287	SPTAN1	Unknown	—	Disgenet
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY	616300 C4225378 MONDO:0014577	CEP120	Causal	25251415 25361962 27208211 476410	ClinVar Disgenet HPO
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY	616546 C4225286 MONDO:0014688	KIAA0586	Causal	—	ClinVar Disgenet GenCC HPO
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY	C4310724 617088 MONDO:0014907	ABCG5	Causal	—	Disgenet
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY	C4310724 617088 MONDO:0014907	DYNC2LI1	Causal	28857138 33030252 26077881 26130459	ClinVar Disgenet GWAS catalog HPO
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY	617102 C4310718 MONDO:0014915	IFT52	Causal	26880018 27466190	ClinGen ClinVar Disgenet GWAS catalog HPO
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY	617405 C4479416 MONDO:0054565	DYNLT2B	Causal	196043103 26044572	CTD ClinVar Disgenet HPO
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY	617866 C4693420 MONDO:0036483	IFT43	Causal	1.55235E+15 1287821998 1552343285 21378380 28400947 29896747	ClinVar Disgenet HPO
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY	617895 C4693524 MONDO:0033485	IFT81	Causal	26275418 27666822	ClinGen ClinVar Disgenet GWAS catalog HPO
SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY	611263	IFT80	Unknown	—	HPO
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY	617925 C4693616 MONDO:0044328	INTU	Causal	27158779 29068549	ClinVar Disgenet HPO
SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY	619479 C5561961 MONDO:0030356	KIAA0753	Causal	—	ClinVar Disgenet HPO
SHORT-RIB THORACIC DYSPLASIA 22 WITHOUT POLYDACTYLY	621260	FGF4	Unknown	—	ClinVar
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY	613091	DYNC2H1	Unknown	—	HPO
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY	613819 C3151185	TTC21B	Unknown	—	Disgenet HPO
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY	614376 C3280598	WDR19	Unknown	—	Disgenet HPO
SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY	263520 MONDO:0009894	NEK1	Causal	—	ClinVar GenCC HPO
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY	614091 C3279792 MONDO:0013569	WDR35	Causal	21473986 22231303 25908617 28400947 28698599 29068549	CTD ClinGen ClinVar Disgenet HPO
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY	615503 C3809691 MONDO:0014214	DYNC2I1	Causal	23910462	ClinGen ClinVar Disgenet HPO
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY	266920 MONDO:0009964	IFT140	Unknown	22503633 26968735 26359340	HPO Orphanet
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY	266920 MONDO:0009964	IFT172	Unknown	24140113	CTD

Short-rib thoracic dysplasia