Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES	C5543020 MONDO:0030947	CLCN6	Unknown	28135719 33217309	ClinGen ClinVar Disgenet GWAS catalog
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION	620089 C5774240 MONDO:0859304	LETM1	Causal	26960370 27287194 30378700 30773800 36055214	ClinVar Disgenet GWAS catalog HPO
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY	619847 C5676972 MONDO:0859241	DTYMK	Causal	31271740 34918187	ClinVar Disgenet HPO
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA	618451 C5193104 MONDO:0032758	IREB2	Causal	11175792 30915432 31243445	CTD ClinVar Disgenet HPO
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE	MONDO:0033546	SLC5A6	Causal	27904971 28135719 31392107 31754459 37391029	ClinVar GWAS catalog
NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES	620987 MONDO:0975837	BORCS8	Unknown	38128568	ClinVar GWAS catalog HPO
NEURODEGENERATIVE SYNDROME DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY	217382 MONDO:0013110	FOLR1	Unknown	19732866 21937992	ClinGen GWAS catalog Orphanet
NEURODEVELOPMENTAL DELAY, HYPOTONIA, CEREBELLAR ATAXIA, CARDIAC CONDUCTION DEFECTS SYNDROME	C5816792	EXOSC5	Unknown	—	Disgenet
NEURODEVELOPMENTAL DELAY, SEIZURES, OPHTHALMIC ANOMALIES, OSTEOPENIA, CEREBELLAR ATROPHY SYNDROME	C4540520	GPAA1	Unknown	—	Disgenet
NEURODEVELOPMENTAL DELAY-BRAIN MALFORMATIONS-SKELETAL DEFECTS-INTELLECTUAL DISABILITY SYNDROME	662207	HNRNPH1	Unknown	29938792 32335897	Orphanet
NEURODEVELOPMENTAL DELAY-CONGENITAL HEART DEFECTS-INTELLECTUAL DISABILITY SYNDROME	662234	SPEN	Unknown	33596411	Orphanet
NEURODEVELOPMENTAL DELAY-HYPOTONIA-CEREBELLAR ATAXIA-CARDIAC CONDUCTION DEFECTS SYNDROME	641361	EXOSC5	Unknown	30950035 32504085	Orphanet
NEURODEVELOPMENTAL DELAY-INTELLECTUAL DISABILITY-ATAXIA-FEEDING DIFFICULTY SYNDROME	647788 C5816755	DHX30	Unknown	29100085 34020708	Disgenet Orphanet
NEURODEVELOPMENTAL DELAY-INTELLECTUAL DISABILITY-SKELETAL DEFECTS SYNDROME	662198 C5925131	HNRNPH2	Unknown	27545675 31670473 33728377	Disgenet Orphanet
NEURODEVELOPMENTAL DELAY-SEIZURES-OPHTHALMIC ANOMALIES-OSTEOPENIA-CEREBELLAR ATROPHY SYNDROME	529665	GPAA1	Unknown	29100095	Orphanet
NEURODEVELOPMENTAL DISORDER	MONDO:0700092	ARHGAP35	Causal	28641477 33057194	Disgenet
		ATP2B2	Causal	—	GenCC
		BAZ2B	Causal	—	GenCC
		BRSK2	Causal	30879638	Disgenet
		DDX23	Causal	33057194	Disgenet
		DNAH14	Causal	35438214	Disgenet
		GIGYF1	Causal	33057194	GWAS catalog
		GRIN2A	Causal	35983985	GWAS catalog
		KLF7	Causal	29251763	Disgenet
		KLHL20	Causal	—	GenCC
		NR4A2	Causal	—	GenCC
		PAX5	Causal	25418537 30559488 35094443	GWAS catalog
		SATB1	Causal	33057194	Disgenet
		SETD1A	Causal	31197650 32346159	GWAS catalog
		SNAP25	Causal	17283335 25003006 25381298 28135719 29100083 29491473	ClinGen
		SUFU	Causal	19533801 28965847 31485359 33024317	GWAS catalog
		ZFHX4	Causal	11935336 33057194	GWAS catalog
		ZMYND8	Causal	—	GenCC
		ADCY5	Unknown	—	GenCC
		ADRA2B	Unknown	21937992	GWAS catalog
		ANK2	Unknown	30755392 22542183 25356970 28191889	GWAS catalog
		ANKS1B	Unknown	—	GenCC
		AP2S1	Unknown	33057194	GWAS catalog
		ARF3	Unknown	36369169	GWAS catalog
		ARHGEF40	Unknown	—	GenCC
		ARL14EP	Unknown	21937992	GWAS catalog
		ASCL1	Unknown	21937992	GWAS catalog
		ATG4D	Unknown	36765070	GWAS catalog
		ATP1A1	Unknown	—	GenCC
		ATP6V1B2	Unknown	—	GenCC
		ATP6V1C1	Unknown	—	GenCC
		BDH1	Unknown	—	GenCC
		CACNA1E	Unknown	—	GenCC
		CACNA1G	Unknown	21937992	Disgenet
		CAPN10	Unknown	21937992	GWAS catalog

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Neurodevelopmental disorder