Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES	618922 C5394517 MONDO:0030063	GRM7	Causal	27435318 28097321 32286009	ClinVar Disgenet HPO Orphanet
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES	620024 C5774209 MONDO:0859283	PPFIBP1	Causal	—	ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM	620250 C5830296 MONDO:0859516	HECTD4	Causal	36401616	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	MONDO:0060622	DHX30	Causal	29100085 34020708	ClinGen ClinVar Disgenet
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY	619972 C5774185 MONDO:0859266	TAF8	Causal	244006 35759269	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES	620070 C5774228 MONDO:0859295	DPH5	Causal	35482014	CTD ClinVar Disgenet HPO
	620070 C5774228 MONDO:0859295	SLC30A7	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS	615075 C3554449 OMIM:615075	CTNNB1	Unknown	—	CTD Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY	616281 C4225388 OMIM:616281	GPT2	Unknown	—	CTD Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES	617977 C4693816 MONDO:0060704	WDR45B	Causal	21937992 27124789 28503735	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES	MONDO:0032849	SEC31A	Causal	30464055	ClinVar GWAS catalog
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076 C4748081 MONDO:0060752	UFC1	Causal	27431290 29868776 30552426	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA	619286 C5543306 MONDO:0859137	MED27	Causal	33443317	ClinGen ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES	C4225295 616531	PAH	Unknown	—	Disgenet
	C4225295 616531	PI4KA	Unknown	—	Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES	620001 C5774197 MONDO:0859275	NSRP1	Causal	34385670	ClinGen ClinVar Disgenet HPO Orphanet
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES	619989 C5774194 MONDO:0859272	THUMPD1	Causal	35196516	ClinVar Disgenet GWAS catalog HPO
	619989 C5774194 MONDO:0859272	ACSM3	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES	619056 C5436699 MONDO:0033630	SETD1A	Causal	26974950 29463886 31197650 32346159	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES	620114 C5774252 MONDO:0859313	CACNA1I	Causal	33704440	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION	621034 MONDO:0976125	CCT3	Unknown	39480921	ClinVar GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES	618577 C5231416 MONDO:0032820	RAC3	Causal	29276006 30293988	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH THIN CORPUS CALLOSUM, HYPOTONIA, AND ABSENT LANGUAGE	621150 MONDO:0976263	EEF1D	Causal	—	ClinVar HPO
NEURODEVELOPMENTAL DISORDER WITH VARIABLE FAMILIAL HYPERCHOLANEMIA	621016 MONDO:0975877	WDR83OS	Unknown	—	ClinVar HPO
NEURODEVELOPMENTAL DISORDER WITH VARIABLE MOTOR AND LANGUAGE IMPAIRMENT	617804 C4540496	DHX30	Unknown	—	Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES	618547 C5231404 MONDO:0032807	HK1	Causal	30778173	ClinVar Disgenet GenCC HPO
	618547 C5231404 MONDO:0032807	DDX23	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH WHITE MATTER ABNORMALITIES AND GAIT DISTURBANCE	MONDO:0976264	FAM177A1	Unknown	—	ClinVar
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES	617710 MONDO:0060578	WARS2	Causal	23236339 28236339 28554332 28650581 28905505 29120065 31970218 34890876	ClinVar HPO Orphanet
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS	619653 C5562040 MONDO:0859212	TNR	Causal	12882316 22730557 28334938 32099069 8626505	ClinGen ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER-BRAIN MALFORMATION-FACIAL DYSMORPHISM-BRACHYDACTYLY SYNDROME	662189	HNRNPR	Unknown	31079900	Orphanet
NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME	MONDO:0018681	HNRNPK	Unknown	26173930 26638989 26954065 28374925 28771707 29904177	CTD ClinGen
NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-SKELETAL ANOMALIES SYNDROME DUE TO 9Q21.3 MICRODELETION	352665	HNRNPK	Unknown	24501764 25348648 26173930	Orphanet
NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-SKELETAL ANOMALIES SYNDROME DUE TO A POINT MUTATION	453504 C5848390	HNRNPK	Unknown	26173930	Disgenet Orphanet
NEURODEVELOPMENTAL DISORDER-SLIT-LIKE LATERAL VENTRICLES-INTELLECTUAL DISABILITY SYNDROME	664430 C5925058	SLC4A10	Unknown	37459438	Disgenet Orphanet
NEURODEVELOPMENTAL DISORDER-SPASTICITY-MOVEMENT DISORDER-EPILEPTIC SYNDROME	684240	YIF1B	Unknown	32006098	Orphanet
NEURODEVELOPMENTAL DISORDERS	C1535926 MESH:D065886	DHX34	Causal	—	Disgenet
		AAAS	Unknown	—	Disgenet
		ABHD16A	Unknown	—	Disgenet
		ACSM3	Unknown	—	Disgenet
		ACTB	Unknown	—	Disgenet
		ADCY5	Unknown	28191889	CTD Disgenet
		ADCY9	Unknown	—	Disgenet
		ADGRL1	Unknown	—	Disgenet
		ADNP	Unknown	28191889	CTD Disgenet
		ADRA2B	Unknown	—	Disgenet
		AFG2A	Unknown	—	Disgenet
		AGA	Unknown	—	Disgenet
		AGO1	Unknown	—	Disgenet
		AGO2	Unknown	—	Disgenet

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Neurodevelopmental disorder