Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
GLOBAL DEVELOPMENTAL DELAY	C0557874	TRHR	Unknown	—	Disgenet
		TSEN15	Unknown	—	Disgenet
		UBAP2L	Unknown	—	Disgenet
		UBE3A	Unknown	—	Disgenet
		UBR7	Unknown	—	Disgenet
		UNC80	Unknown	—	Disgenet
		UPF1	Unknown	—	Disgenet
		USP9X	Unknown	—	Disgenet
		WDR20	Unknown	—	Disgenet
		YARS1	Unknown	—	Disgenet
		ZNF41	Unknown	—	Disgenet
		ZNF778	Unknown	—	Disgenet
GLOBAL DEVELOPMENTAL DELAY - LUNG CYSTS - OVERGROWTH - WILMS TUMOR SYNDROME	MONDO:0018445	DICER1	Causal	24676357 33208384	ClinVar Disgenet
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	C5193032 MONDO:0032680	CUX1	Causal	—	ClinVar Disgenet GenCC
		TAOK1	Causal	—	Disgenet
		EMC10	Unknown	32869858	CTD Disgenet
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES	619243 C5543226 MONDO:0030995	TNRC6B	Causal	26236334 27824329 29463886 30564305 32152250	ClinGen ClinVar Disgenet HPO
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES	617260 C4310644 MONDO:0014994 OMIM:617260	ZNF148	Causal	27964749 36444493 617260	CTD ClinVar Disgenet HPO
	617260 C4310644 MONDO:0014994 OMIM:617260	PMM1	Unknown	—	Disgenet
GLOBAL DEVELOPMENTAL DELAY, ALOPECIA, MACROCEPHALY, FACIAL DYSMORPHISM, STRUCTURAL BRAIN ANOMALIES SYNDROME	C5436741	ODC1	Unknown	—	Disgenet
GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR	618272	DICER1	Unknown	—	HPO
GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, WILMS TUMOR SYNDROME	C4748924	DICER1	Unknown	—	Disgenet
GLOBAL DEVELOPMENTAL DELAY, NEURO-OPHTHALMOLOGICAL ABNORMALITIES, SEIZURES, INTELLECTUAL DISABILITY SYNDROME	C5567482	GNB1	Unknown	—	Disgenet
GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE	618412 C5193080 MONDO:0032733	GLS	Causal	29302074 29468182 30575854 30970188	ClinVar Disgenet GWAS catalog HPO
GLOBAL DEVELOPMENTAL DELAY, VISUAL ANOMALIES, PROGRESSIVE CEREBELLAR ATROPHY, TRUNCAL HYPOTONIA SYNDROME	C5567522	EMC1	Unknown	—	Disgenet
	C5567522	PURA	Unknown	—	Disgenet
GLOBAL DEVELOPMENTAL DELAY-ALOPECIA-MACROCEPHALY-FACIAL DYSMORPHISM-STRUCTURAL BRAIN ANOMALIES SYNDROME	544488	ODC1	Unknown	30239107 30475435 30544565	Orphanet
GLOBAL DEVELOPMENTAL DELAY-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM-PSEUDO-PELGER-HU ? ? ? T ANOMALY SYNDROME	698085	TMEM147	Unknown	36044892	Orphanet
GLOBAL DEVELOPMENTAL DELAY-INTELLECTUAL DISABILITY-MICROCEPHALY-SHORT STATURE-BRAIN IRON ACCUMULATION SYNDROME	697067	BCAS3	Unknown	34022130	Orphanet
GLOBAL DEVELOPMENTAL DELAY-LUNG CYSTS-OVERGROWTH-WILMS TUMOR SYNDROME	404476	DICER1	Unknown	24676357	Orphanet
GLOBAL DEVELOPMENTAL DELAY-NEURO-OPHTHALMOLOGICAL ABNORMALITIES-SEIZURES-INTELLECTUAL DISABILITY SYNDROME	488613	GNB1	Unknown	27108799 27668284 28087732	Orphanet
GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME	480898 MONDO:0018822	EMC1	Unknown	26942288	Disgenet Orphanet

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Global developmental delay