Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
SECKEL SYNDROME	808 C0265202 MONDO:0019342	ATRIP	Causal	20301772 23144622	Disgenet GWAS catalog Orphanet
		CEP152	Causal	21131973	ClinGen Disgenet Orphanet
		PRIM1	Causal	—	Disgenet
		ATR	Unknown	12640452	Disgenet GWAS catalog Orphanet
		CDK5RAP2	Unknown	—	Disgenet
		CENPE	Unknown	24748105	Disgenet GWAS catalog Orphanet
		CEP295	Unknown	38154379	Orphanet
		CEP63	Unknown	21983783	Orphanet
		CPAP	Unknown	20522431	Disgenet GWAS catalog Orphanet
		DNA2	Unknown	24389050	Disgenet Orphanet
		NIN	Unknown	22933543	Orphanet
		NSMCE2	Unknown	25105364	Orphanet
		NUP85	Unknown	34170319	Disgenet Orphanet
		PCNT	Unknown	19643772	Orphanet
		PLK4	Unknown	25320347 25344692	Disgenet GWAS catalog Orphanet
		RBBP8	Unknown	21998596	Disgenet GWAS catalog Orphanet
		RNF17	Unknown	—	Disgenet
		TRAIP	Unknown	26595769	CTD Disgenet Orphanet
SECKEL SYNDROME 1	210600 C4551474 MESH:C537533 MONDO:0008869	ATR	Causal	12640452 19620979 23144622 30199583	CTD ClinVar Disgenet GWAS catalog HPO
		CEP152	Unknown	21131973	CTD Disgenet
		PCNT	Unknown	18157127	CTD Disgenet
SECKEL SYNDROME 10	617253 C4310647 MONDO:0014991	NSMCE2	Causal	25058500 25105364 26443207	ClinGen ClinVar Disgenet GWAS catalog HPO
SECKEL SYNDROME 11	620767 C5935595 MONDO:0958328	CEP295	Causal	—	ClinVar Disgenet HPO
SECKEL SYNDROME 2	606744 C1847572 MESH:C537534 MONDO:0011715	RBBP8	Causal	—	CTD ClinVar Disgenet GenCC HPO
SECKEL SYNDROME 2	606744 C1847572 MESH:C537534 MONDO:0011715	PCNT	Unknown	18174396	CTD Disgenet
SECKEL SYNDROME 4	613676 C3888212 MONDO:0013358 OMIM:613676	CPAP	Causal	—	CTD ClinVar Disgenet HPO
SECKEL SYNDROME 4	613676 C3888212 MONDO:0013358 OMIM:613676	RNF17	Unknown	—	Disgenet
SECKEL SYNDROME 5	613823 C3151187 MONDO:0013443	CEP152	Causal	21131973	ClinVar Disgenet HPO
		CPAP	Causal	—	Disgenet
		RNF17	Unknown	—	Disgenet
SECKEL SYNDROME 6	614728 C3553582 MONDO:0013871	CEP63	Causal	21983783	ClinVar Disgenet GenCC HPO
SECKEL SYNDROME 7	614851 C3553870 MONDO:0013922	NIN	Causal	—	ClinVar Disgenet GenCC HPO
SECKEL SYNDROME 8	615807 C3891452 MONDO:0014350	DNA2	Causal	24389050 31045292	ClinVar Disgenet HPO
SECKEL SYNDROME 9	616777 C4225212 MONDO:0014767	TRAIP	Causal	26595769	CTD ClinVar Disgenet HPO

Seckel syndrome