Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY	619616 C5562024 MONDO:0859206	AFG2B	Causal	34626583	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES	616577 OMIM:616577	AFG2A	Unknown	—	CTD HPO
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA	619651 C5562038 MONDO:0859211	ADCY5	Causal	28971144 30975617 33704598 34631954	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES	620732 C5935585 MONDO:0958240	PI4K2A	Causal	—	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS	618760 C5231491 MONDO:0032900	VAMP2	Causal	30929742 32336483	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES	619512 C5561977 MONDO:0859187	CLCN3	Causal	34186028 36536096	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES	618879 C5394372 MONDO:0030037	PIGK	Causal	32220290	ClinVar Disgenet HPO Orphanet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES	620746 C5935589 MONDO:0958278	SLC4A10	Causal	37459438 38054405	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES	619503 C5561974 MONDO:0859185	GNB2	Causal	31698099 28219978 33057194 34183358	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY	619639 C5562031 MONDO:0859207	UBE4A	Causal	27431290 33420346	ClinVar Disgenet GWAS catalog HPO
		ZFTRAF1	Causal	—	Disgenet
		TMEM276-ZFTRAF1	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES	617171 C4310683 OMIM:617171	DEAF1	Unknown	—	CTD Disgenet HPO
	617171 C4310683 OMIM:617171	DLG4	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES	620790 C5935609 MONDO:0968979	OTUD7A	Causal	—	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES	620455 C5830654 MONDO:0957541	EIF4A2	Causal	—	ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES	618603 C5231423 MONDO:0032829	POLR2A	Causal	31353023 35461703 33665635	ClinGen ClinVar Disgenet HPO
	618603 C5231423 MONDO:0032829	PUF60	Causal	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE	C5935628	SIRT4	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES	614501 C3281055	SNIP1	Unknown	—	Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES	620224 C5830244 MONDO:0859365	TRPM3	Causal	35146895 32439617 34438093 31278393 36648066	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES	620191 C5774285 MONDO:0859347	PGM2L1	Causal	33979636	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES	619383 C5543591 MONDO:0859165	PPP1R21	Causal	32985083 28940097 30520571 29808498	CTD ClinGen ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES	620852 C5935629 MONDO:0971043	WBP4	Causal	37963460	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES	C5676894 616579 OMIM:616579	CAMK2B	Unknown	—	Disgenet
		CHAMP1	Unknown	—	CTD Disgenet HPO
		KMT2E	Unknown	—	Disgenet
		TRIO	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES	619854 C5676975 MONDO:0859243	GNAI1	Causal	28135719 31164858 33473207	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES	620029 C5774213 MONDO:0859286	CACNA1C	Causal	—	ClinVar Disgenet GenCC HPO
	620029 C5774213 MONDO:0859286	CACNA1A	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES	618862 C5394312 MONDO:0030025	ADARB1	Causal	32719099	ClinVar Disgenet GWAS catalog HPO
	618862 C5394312 MONDO:0030025	CPSF3	Causal	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION	618797 C5394091 MONDO:0032921	RALGAPA1	Causal	19733229 28940419 32004447	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS	617519 C4479603 MONDO:0060496	SPTBN4	Causal	28540413 28940097 31230720 29861105 31857255	ClinGen ClinVar Disgenet HPO Orphanet
	617519 C4479603 MONDO:0060496	ITGB4	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA	621068 MONDO:0976131	SEL1L	Unknown	—	ClinVar HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE	C4310643 617268 MONDO:0014995 OMIM:617268	ANKRD44	Causal	—	Disgenet
		HECW2	Causal	27389779 27334371 34321324 29395664 29807643 32814609 33205896 34047014 34327820 35987951 37280227	CTD ClinVar Disgenet HPO
		NTNG2	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SPEECH DELAY, AND DYSMORPHIC FACIES	616351 OMIM:616351	CERT1	Unknown	—	CTD HPO
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE	613443 C3150700 MONDO:0013266 OMIM:613443	MEF2C	Causal	20513142 19592390 23001426 34022131 35719119	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA	618292 C4749014 MONDO:0032661	DOCK3	Causal	28195318 29130632	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES	619580 C5562006 MONDO:0859201	GRIK2	Causal	34375587	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES	620494 C5882686 MONDO:0957588	UBAP2L	Causal	—	ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS	618425 C5193088 MONDO:0032741	ZNF142	Causal	31036918 35616059	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS	619373 C5543538 MONDO:0859162	NCDN	Causal	31785789 33711248	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES	619995 C5774196 MONDO:0859274	SMG9	Causal	—	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY	620371 C5830509 MONDO:0957267	ESAM	Causal	—	ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS	617493 C4479569 MONDO:0060491	GNAO1	Causal	27864847 28357411 28688840 28747448	ClinVar Disgenet HPO

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Neurodevelopmental disorder