Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Impairment in personality functioning (HP:0031466)

Parent Node:
Abnormal fear/anxiety-related behavior (HP:0100852)

..Starting node
..Anxiety (HP:0000739)

Term ID:

739

Name:

Anxiety

Synonym:

Anxiety; Anxiety disease; Anxiousness; Excessive, persistent worry and fear

Definition:

Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.

Comments:

Reference:

HP:0000739

Genes and Diseases:

Child Nodes:

........

Episodic paroxysmal anxiety (HP:0000740)

Sister Nodes:

Agoraphobia (HP:0000756)

Claustrophobia (HP:0025253)

Panic attack (HP:0025269)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000739	HP:0000739	Anxiety	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0000739	HP:0000739	Anxiety	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63		19
HP:0000739	HP:0000739	Anxiety	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0000739	HP:0000739	Anxiety	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0000739	HP:0000739	Anxiety	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	530
HP:0000739	HP:0000739	Anxiety	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:0000739	HP:0000739	Anxiety	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent	47
HP:0000739	HP:0000739	Anxiety	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0000739	HP:0000739	Anxiety	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0000739	HP:0000739	Anxiety	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0000739	HP:0000739	Anxiety	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.	108
HP:0000739	HP:0000739	Anxiety	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0000739	HP:0000739	Anxiety	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0000739	HP:0000739	Anxiety	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000739	HP:0000739	Anxiety	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0000739	HP:0000739	Anxiety	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0000739	HP:0000739	Anxiety	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000739	HP:0000739	Anxiety	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional
HP:0000739	HP:0000739	Anxiety	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000739	HP:0000739	Anxiety	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.	1
HP:0000739	HP:0000739	Anxiety	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0000739	HP:0000739	Anxiety	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040283 - Occasional	150
HP:0000739	HP:0000739	Anxiety	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0000739	HP:0000739	Anxiety	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0000739	HP:0000739	Anxiety	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	385
HP:0000739	HP:0000739	Anxiety	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000739	HP:0000739	Anxiety	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0000739	HP:0000739	Anxiety	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040283 - Occasional	56
HP:0000739	HP:0000739	Anxiety	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	56
HP:0000739	HP:0000739	Anxiety	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	94
HP:0000739	HP:0000739	Anxiety	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0000739	HP:0000739	Anxiety	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	75
HP:0000739	HP:0000739	Anxiety	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	272
HP:0000739	HP:0000739	Anxiety	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0000739	HP:0000739	Anxiety	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000739	HP:0000739	Anxiety	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000739	HP:0000739	Anxiety	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	636
HP:0000739	HP:0000739	Anxiety	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0000739	HP:0000739	Anxiety	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0000739	HP:0000739	Anxiety	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0000739	HP:0000739	Anxiety	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0000739	HP:0000739	Anxiety	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0000739	HP:0000739	Anxiety	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0000739	HP:0000739	Anxiety	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0000739	HP:0000739	Anxiety	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional	9
HP:0000739	HP:0000739	Anxiety	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0000739	HP:0000739	Anxiety	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0000739	HP:0000739	Anxiety	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	515
HP:0000739	HP:0000739	Anxiety	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000739	HP:0000739	Anxiety	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0000739	HP:0000739	Anxiety	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	42
HP:0000739	HP:0000739	Anxiety	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	188
HP:0000739	HP:0000739	Anxiety	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	225
HP:0000739	HP:0000739	Anxiety	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	88
HP:0000739	HP:0000739	Anxiety	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	15
HP:0000739	HP:0000739	Anxiety	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0000739	HP:0000739	Anxiety	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0000739	HP:0000739	Anxiety	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000739	HP:0000739	Anxiety	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0000739	HP:0000739	Anxiety	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0000739	HP:0000739	Anxiety	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0000739	HP:0000739	Anxiety	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0000739	HP:0000739	Anxiety	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040283 - Occasional	141
HP:0000739	HP:0000739	Anxiety	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional	60
HP:0000739	HP:0000739	Anxiety	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0000739	HP:0000739	Anxiety	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent	263
HP:0000739	HP:0000739	Anxiety	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000739	HP:0000739	Anxiety	0	COMT CL E G H	1312	2228	OMIM:167870	Panic disorder 1	.	6
HP:0000739	HP:0000739	Anxiety	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0000739	HP:0000739	Anxiety	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0000739	HP:0000739	Anxiety	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0000739	HP:0000739	Anxiety	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	1
HP:0000739	HP:0000739	Anxiety	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0000739	HP:0000739	Anxiety	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0000739	HP:0000739	Anxiety	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0000739	HP:0000739	Anxiety	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0000739	HP:0000739	Anxiety	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000739	HP:0000739	Anxiety	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0000739	HP:0000739	Anxiety	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	172
HP:0000739	HP:0000739	Anxiety	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0000739	HP:0000739	Anxiety	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0000739	HP:0000739	Anxiety	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0000739	HP:0000739	Anxiety	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0000739	HP:0000739	Anxiety	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional	82
HP:0000739	HP:0000739	Anxiety	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0000739	HP:0000739	Anxiety	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0000739	HP:0000739	Anxiety	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0000739	HP:0000739	Anxiety	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0000739	HP:0000739	Anxiety	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000739	HP:0000739	Anxiety	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0000739	HP:0000739	Anxiety	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0000739	HP:0000739	Anxiety	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0000739	HP:0000739	Anxiety	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0000739	HP:0000739	Anxiety	0	DRD2 CL E G H	1813	3023	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	16
HP:0000739	HP:0000739	Anxiety	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	4
HP:0000739	HP:0000739	Anxiety	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0000739	HP:0000739	Anxiety	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent	134
HP:0000739	HP:0000739	Anxiety	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0000739	HP:0000739	Anxiety	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0000739	HP:0000739	Anxiety	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000739	HP:0000739	Anxiety	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000739	HP:0000739	Anxiety	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000739	HP:0000739	Anxiety	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000739	HP:0000739	Anxiety	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0000739	HP:0000739	Anxiety	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	170
HP:0000739	HP:0000739	Anxiety	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0000739	HP:0000739	Anxiety	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0000739	HP:0000739	Anxiety	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	33
HP:0000739	HP:0000739	Anxiety	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040284 - Very rare	76
HP:0000739	HP:0000739	Anxiety	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	15
HP:0000739	HP:0000739	Anxiety	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0000739	HP:0000739	Anxiety	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0000739	HP:0000739	Anxiety	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0000739	HP:0000739	Anxiety	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0000739	HP:0000739	Anxiety	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	17
HP:0000739	HP:0000739	Anxiety	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0000739	HP:0000739	Anxiety	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0000739	HP:0000739	Anxiety	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	172
HP:0000739	HP:0000739	Anxiety	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0000739	HP:0000739	Anxiety	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0000739	HP:0000739	Anxiety	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0000739	HP:0000739	Anxiety	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0000739	HP:0000739	Anxiety	0	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria	HP:0040283 - Occasional	55
HP:0000739	HP:0000739	Anxiety	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040283 - Occasional	30
HP:0000739	HP:0000739	Anxiety	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0000739	HP:0000739	Anxiety	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0000739	HP:0000739	Anxiety	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040282 - Frequent	30
HP:0000739	HP:0000739	Anxiety	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0000739	HP:0000739	Anxiety	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0000739	HP:0000739	Anxiety	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0000739	HP:0000739	Anxiety	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0000739	HP:0000739	Anxiety	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0000739	HP:0000739	Anxiety	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0000739	HP:0000739	Anxiety	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000739	HP:0000739	Anxiety	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0000739	HP:0000739	Anxiety	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0000739	HP:0000739	Anxiety	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0000739	HP:0000739	Anxiety	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	134
HP:0000739	HP:0000739	Anxiety	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0000739	HP:0000739	Anxiety	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	57
HP:0000739	HP:0000739	Anxiety	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	10
HP:0000739	HP:0000739	Anxiety	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	139
HP:0000739	HP:0000739	Anxiety	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0000739	HP:0000739	Anxiety	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	139
HP:0000739	HP:0000739	Anxiety	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	139
HP:0000739	HP:0000739	Anxiety	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0000739	HP:0000739	Anxiety	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0000739	HP:0000739	Anxiety	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0000739	HP:0000739	Anxiety	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0000739	HP:0000739	Anxiety	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0000739	HP:0000739	Anxiety	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0000739	HP:0000739	Anxiety	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0000739	HP:0000739	Anxiety	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0000739	HP:0000739	Anxiety	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0000739	HP:0000739	Anxiety	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0000739	HP:0000739	Anxiety	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0000739	HP:0000739	Anxiety	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0000739	HP:0000739	Anxiety	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0000739	HP:0000739	Anxiety	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent	69
HP:0000739	HP:0000739	Anxiety	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	16
HP:0000739	HP:0000739	Anxiety	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0000739	HP:0000739	Anxiety	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0000739	HP:0000739	Anxiety	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0000739	HP:0000739	Anxiety	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0000739	HP:0000739	Anxiety	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000739	HP:0000739	Anxiety	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	15
HP:0000739	HP:0000739	Anxiety	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	92
HP:0000739	HP:0000739	Anxiety	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000739	HP:0000739	Anxiety	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent	5
HP:0000739	HP:0000739	Anxiety	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0000739	HP:0000739	Anxiety	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0000739	HP:0000739	Anxiety	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	434
HP:0000739	HP:0000739	Anxiety	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	126
HP:0000739	HP:0000739	Anxiety	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0000739	HP:0000739	Anxiety	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000739	HP:0000739	Anxiety	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000739	HP:0000739	Anxiety	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000739	HP:0000739	Anxiety	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000739	HP:0000739	Anxiety	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional
HP:0000739	HP:0000739	Anxiety	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	54
HP:0000739	HP:0000739	Anxiety	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000739	HP:0000739	Anxiety	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0000739	HP:0000739	Anxiety	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0000739	HP:0000739	Anxiety	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000739	HP:0000739	Anxiety	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.	13
HP:0000739	HP:0000739	Anxiety	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000739	HP:0000739	Anxiety	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000739	HP:0000739	Anxiety	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0000739	HP:0000739	Anxiety	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0000739	HP:0000739	Anxiety	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0000739	HP:0000739	Anxiety	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0000739	HP:0000739	Anxiety	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0000739	HP:0000739	Anxiety	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0000739	HP:0000739	Anxiety	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	8
HP:0000739	HP:0000739	Anxiety	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0000739	HP:0000739	Anxiety	0	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1		4
HP:0000739	HP:0000739	Anxiety	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0000739	HP:0000739	Anxiety	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0000739	HP:0000739	Anxiety	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0000739	HP:0000739	Anxiety	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0000739	HP:0000739	Anxiety	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0000739	HP:0000739	Anxiety	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0000739	HP:0000739	Anxiety	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000739	HP:0000739	Anxiety	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.	2
HP:0000739	HP:0000739	Anxiety	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0000739	HP:0000739	Anxiety	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000739	HP:0000739	Anxiety	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000739	HP:0000739	Anxiety	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000739	HP:0000739	Anxiety	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000739	HP:0000739	Anxiety	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0000739	HP:0000739	Anxiety	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	321
HP:0000739	HP:0000739	Anxiety	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	HP:0040283 - Occasional	1
HP:0000739	HP:0000739	Anxiety	0	KCTD17 CL E G H	79734	25705	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0000739	HP:0000739	Anxiety	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0000739	HP:0000739	Anxiety	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	14
HP:0000739	HP:0000739	Anxiety	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0000739	HP:0000739	Anxiety	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0000739	HP:0000739	Anxiety	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0000739	HP:0000739	Anxiety	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent	13
HP:0000739	HP:0000739	Anxiety	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.	13
HP:0000739	HP:0000739	Anxiety	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	196
HP:0000739	HP:0000739	Anxiety	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0000739	HP:0000739	Anxiety	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0000739	HP:0000739	Anxiety	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000739	HP:0000739	Anxiety	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0000739	HP:0000739	Anxiety	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5
HP:0000739	HP:0000739	Anxiety	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0000739	HP:0000739	Anxiety	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0000739	HP:0000739	Anxiety	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000739	HP:0000739	Anxiety	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	140
HP:0000739	HP:0000739	Anxiety	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0000739	HP:0000739	Anxiety	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0000739	HP:0000739	Anxiety	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000739	HP:0000739	Anxiety	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0000739	HP:0000739	Anxiety	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000739	HP:0000739	Anxiety	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000739	HP:0000739	Anxiety	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	462
HP:0000739	HP:0000739	Anxiety	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000739	HP:0000739	Anxiety	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0000739	HP:0000739	Anxiety	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040283 - Occasional	1
HP:0000739	HP:0000739	Anxiety	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1819
HP:0000739	HP:0000739	Anxiety	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	131
HP:0000739	HP:0000739	Anxiety	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000739	HP:0000739	Anxiety	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000739	HP:0000739	Anxiety	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent	6
HP:0000739	HP:0000739	Anxiety	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2162
HP:0000739	HP:0000739	Anxiety	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2232
HP:0000739	HP:0000739	Anxiety	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0000739	HP:0000739	Anxiety	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	516
HP:0000739	HP:0000739	Anxiety	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	516
HP:0000739	HP:0000739	Anxiety	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0000739	HP:0000739	Anxiety	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000739	HP:0000739	Anxiety	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040282 - Frequent	39
HP:0000739	HP:0000739	Anxiety	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0000739	HP:0000739	Anxiety	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0000739	HP:0000739	Anxiety	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000739	HP:0000739	Anxiety	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0000739	HP:0000739	Anxiety	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0000739	HP:0000739	Anxiety	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	HP:0040284 - Very rare	1
HP:0000739	HP:0000739	Anxiety	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0000739	HP:0000739	Anxiety	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0000739	HP:0000739	Anxiety	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000739	HP:0000739	Anxiety	0	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary	.	51
HP:0000739	HP:0000739	Anxiety	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0000739	HP:0000739	Anxiety	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0000739	HP:0000739	Anxiety	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0000739	HP:0000739	Anxiety	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0000739	HP:0000739	Anxiety	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0000739	HP:0000739	Anxiety	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0000739	HP:0000739	Anxiety	0	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	HP:0040283 - Occasional	79
HP:0000739	HP:0000739	Anxiety	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0000739	HP:0000739	Anxiety	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0000739	HP:0000739	Anxiety	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000739	HP:0000739	Anxiety	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0000739	HP:0000739	Anxiety	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0000739	HP:0000739	Anxiety	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0000739	HP:0000739	Anxiety	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000739	HP:0000739	Anxiety	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0000739	HP:0000739	Anxiety	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0000739	HP:0000739	Anxiety	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	352
HP:0000739	HP:0000739	Anxiety	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0000739	HP:0000739	Anxiety	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent	225
HP:0000739	HP:0000739	Anxiety	0	PDE10A CL E G H	10846	8772	ORPHA:494541	Childhood-onset benign chorea with striatal involvement	HP:0040283 - Occasional	5
HP:0000739	HP:0000739	Anxiety	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0000739	HP:0000739	Anxiety	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0000739	HP:0000739	Anxiety	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	HP:0040283 - Occasional	28
HP:0000739	HP:0000739	Anxiety	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	40
HP:0000739	HP:0000739	Anxiety	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0000739	HP:0000739	Anxiety	0	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS		2
HP:0000739	HP:0000739	Anxiety	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0000739	HP:0000739	Anxiety	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	162
HP:0000739	HP:0000739	Anxiety	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0000739	HP:0000739	Anxiety	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0000739	HP:0000739	Anxiety	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	56
HP:0000739	HP:0000739	Anxiety	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1121
HP:0000739	HP:0000739	Anxiety	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0000739	HP:0000739	Anxiety	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000739	HP:0000739	Anxiety	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0000739	HP:0000739	Anxiety	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0000739	HP:0000739	Anxiety	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B		45
HP:0000739	HP:0000739	Anxiety	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0000739	HP:0000739	Anxiety	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0000739	HP:0000739	Anxiety	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0000739	HP:0000739	Anxiety	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent	41
HP:0000739	HP:0000739	Anxiety	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000739	HP:0000739	Anxiety	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0000739	HP:0000739	Anxiety	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0000739	HP:0000739	Anxiety	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0000739	HP:0000739	Anxiety	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0000739	HP:0000739	Anxiety	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent	2
HP:0000739	HP:0000739	Anxiety	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0000739	HP:0000739	Anxiety	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0000739	HP:0000739	Anxiety	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent	69
HP:0000739	HP:0000739	Anxiety	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.	69
HP:0000739	HP:0000739	Anxiety	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0000739	HP:0000739	Anxiety	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	9
HP:0000739	HP:0000739	Anxiety	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0000739	HP:0000739	Anxiety	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0000739	HP:0000739	Anxiety	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000739	HP:0000739	Anxiety	0	PRRT2 CL E G H	112476	30500	OMIM:602066	Convulsions, familial infantile, with paroxysmal choreoathetosis	.	94
HP:0000739	HP:0000739	Anxiety	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	241
HP:0000739	HP:0000739	Anxiety	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0000739	HP:0000739	Anxiety	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0000739	HP:0000739	Anxiety	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0000739	HP:0000739	Anxiety	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0000739	HP:0000739	Anxiety	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0000739	HP:0000739	Anxiety	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0000739	HP:0000739	Anxiety	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000739	HP:0000739	Anxiety	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040282 - Frequent	150
HP:0000739	HP:0000739	Anxiety	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0000739	HP:0000739	Anxiety	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0000739	HP:0000739	Anxiety	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0000739	HP:0000739	Anxiety	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS		2
HP:0000739	HP:0000739	Anxiety	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000739	HP:0000739	Anxiety	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0000739	HP:0000739	Anxiety	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000739	HP:0000739	Anxiety	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0000739	HP:0000739	Anxiety	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	HP:0040283 - Occasional	125
HP:0000739	HP:0000739	Anxiety	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0000739	HP:0000739	Anxiety	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0000739	HP:0000739	Anxiety	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	1053
HP:0000739	HP:0000739	Anxiety	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0000739	HP:0000739	Anxiety	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	126
HP:0000739	HP:0000739	Anxiety	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0000739	HP:0000739	Anxiety	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	427
HP:0000739	HP:0000739	Anxiety	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0000739	HP:0000739	Anxiety	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	318
HP:0000739	HP:0000739	Anxiety	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0000739	HP:0000739	Anxiety	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0000739	HP:0000739	Anxiety	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0000739	HP:0000739	Anxiety	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4		237
HP:0000739	HP:0000739	Anxiety	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0000739	HP:0000739	Anxiety	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0000739	HP:0000739	Anxiety	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0000739	HP:0000739	Anxiety	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0000739	HP:0000739	Anxiety	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0000739	HP:0000739	Anxiety	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0000739	HP:0000739	Anxiety	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000739	HP:0000739	Anxiety	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	48
HP:0000739	HP:0000739	Anxiety	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0000739	HP:0000739	Anxiety	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0000739	HP:0000739	Anxiety	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000739	HP:0000739	Anxiety	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000739	HP:0000739	Anxiety	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0000739	HP:0000739	Anxiety	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0000739	HP:0000739	Anxiety	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0000739	HP:0000739	Anxiety	0	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.	49
HP:0000739	HP:0000739	Anxiety	0	SGCE CL E G H	8910	10808	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	49
HP:0000739	HP:0000739	Anxiety	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0000739	HP:0000739	Anxiety	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0000739	HP:0000739	Anxiety	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0000739	HP:0000739	Anxiety	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0000739	HP:0000739	Anxiety	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0000739	HP:0000739	Anxiety	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000739	HP:0000739	Anxiety	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000739	HP:0000739	Anxiety	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000739	HP:0000739	Anxiety	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0000739	HP:0000739	Anxiety	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000739	HP:0000739	Anxiety	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0000739	HP:0000739	Anxiety	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000739	HP:0000739	Anxiety	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0000739	HP:0000739	Anxiety	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0000739	HP:0000739	Anxiety	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	255
HP:0000739	HP:0000739	Anxiety	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0000739	HP:0000739	Anxiety	0	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.	2
HP:0000739	HP:0000739	Anxiety	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0000739	HP:0000739	Anxiety	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent	12
HP:0000739	HP:0000739	Anxiety	0	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1		52
HP:0000739	HP:0000739	Anxiety	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0000739	HP:0000739	Anxiety	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0000739	HP:0000739	Anxiety	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000739	HP:0000739	Anxiety	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0000739	HP:0000739	Anxiety	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000739	HP:0000739	Anxiety	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0000739	HP:0000739	Anxiety	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000739	HP:0000739	Anxiety	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0000739	HP:0000739	Anxiety	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent	11
HP:0000739	HP:0000739	Anxiety	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome		11
HP:0000739	HP:0000739	Anxiety	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0000739	HP:0000739	Anxiety	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0000739	HP:0000739	Anxiety	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	5
HP:0000739	HP:0000739	Anxiety	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000739	HP:0000739	Anxiety	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0000739	HP:0000739	Anxiety	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000739	HP:0000739	Anxiety	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	50
HP:0000739	HP:0000739	Anxiety	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000739	HP:0000739	Anxiety	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0000739	HP:0000739	Anxiety	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0000739	HP:0000739	Anxiety	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0000739	HP:0000739	Anxiety	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0000739	HP:0000739	Anxiety	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0000739	HP:0000739	Anxiety	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0000739	HP:0000739	Anxiety	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0000739	HP:0000739	Anxiety	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	9
HP:0000739	HP:0000739	Anxiety	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0000739	HP:0000739	Anxiety	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0000739	HP:0000739	Anxiety	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0000739	HP:0000739	Anxiety	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000739	HP:0000739	Anxiety	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000739	HP:0000739	Anxiety	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0000739	HP:0000739	Anxiety	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0000739	HP:0000739	Anxiety	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000739	HP:0000739	Anxiety	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0000739	HP:0000739	Anxiety	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0000739	HP:0000739	Anxiety	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000739	HP:0000739	Anxiety	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0000739	HP:0000739	Anxiety	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000739	HP:0000739	Anxiety	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0000739	HP:0000739	Anxiety	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	253
HP:0000739	HP:0000739	Anxiety	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000739	HP:0000739	Anxiety	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000739	HP:0000739	Anxiety	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0000739	HP:0000739	Anxiety	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000739	HP:0000739	Anxiety	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0000739	HP:0000739	Anxiety	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0000739	HP:0000739	Anxiety	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000739	HP:0000739	Anxiety	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0000739	HP:0000739	Anxiety	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional	6
HP:0000739	HP:0000739	Anxiety	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0000739	HP:0000739	Anxiety	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000739	HP:0000739	Anxiety	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	TOR1A CL E G H	1861	3098	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	47
HP:0000739	HP:0000739	Anxiety	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0000739	HP:0000739	Anxiety	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0000739	HP:0000739	Anxiety	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	31
HP:0000739	HP:0000739	Anxiety	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0000739	HP:0000739	Anxiety	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000739	HP:0000739	Anxiety	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional
HP:0000739	HP:0000739	Anxiety	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000739	HP:0000739	Anxiety	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0000739	HP:0000739	Anxiety	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0000739	HP:0000739	Anxiety	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0000739	HP:0000739	Anxiety	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0000739	HP:0000739	Anxiety	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0000739	HP:0000739	Anxiety	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0000739	HP:0000739	Anxiety	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000739	HP:0000739	Anxiety	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0000739	HP:0000739	Anxiety	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0000739	HP:0000739	Anxiety	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	173
HP:0000739	HP:0000739	Anxiety	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	78
HP:0000739	HP:0000739	Anxiety	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	777
HP:0000739	HP:0000739	Anxiety	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0000739	HP:0000739	Anxiety	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0000739	HP:0000739	Anxiety	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63
HP:0000739	HP:0000739	Anxiety	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	63
HP:0000739	HP:0000739	Anxiety	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0000739	HP:0000739	Anxiety	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0000739	HP:0000739	Anxiety	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0000739	HP:0000739	Anxiety	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0000739	HP:0000739	Anxiety	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0000739	HP:0000739	Anxiety	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0000739	HP:0000739	Anxiety	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000739	HP:0000739	Anxiety	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.	20
HP:0000739	HP:0000739	Anxiety	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040282 - Frequent	20
HP:0000739	HP:0000739	Anxiety	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040282 - Frequent	20
HP:0000739	HP:0000739	Anxiety	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0000739	HP:0000739	Anxiety	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	10
HP:0000739	HP:0000739	Anxiety	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040281 - Very frequent	389
HP:0000739	HP:0000739	Anxiety	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant	HP:0040283 - Occasional	389
HP:0000739	HP:0000739	Anxiety	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	155
HP:0000739	HP:0000739	Anxiety	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.	8
HP:0000739	HP:0000739	Anxiety	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.
HP:0000739	HP:0000739	Anxiety	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0000739	HP:0000739	Anxiety	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000739	HP:0000739	Anxiety	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	7
HP:0000739	HP:0000739	Anxiety	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000739	HP:0000739	Anxiety	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0000739	HP:0000739	Anxiety	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0000739	HP:0000739	Anxiety	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0000739	HP:0000739	Anxiety	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0000739	HP:0000739	Anxiety	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0000739	HP:0000740	Episodic paroxysmal anxiety	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490

Genes (412) :ABCC9 ACSL4 ADCY5 ADGRV1 ADNP AIP ALAD ALDH4A1 ALDH5A1 ALG14 ANG ANXA11 AP1G1 APC2 AR ARID2 ARSG ARVCF ASH1L ATP1A3 ATXN2 BAZ1B BCL11B BCL7B BMPR1A BPTF BRD4 BUD23 C9ORF72 CABP4 CACNA1A CACNA1H CASR CCND1 CCNF CDC42BPB CDH2 CDH23 CDKN2A CDON CEACAM3 CEACAM6 CEP78 CFAP410 CFTR CHCHD10 CHD7 CHD8 CHMP2B CHRNA2 CHRNA4 CHRNB2 CIB2 CIC CLCA4 CLCN3 CLCN4 CLIP2 CLN3 CLN5 CLRN1 CLTRN COL7A1 COMT COQ2 COX1 COX2 COX3 CPOX CRH CTNNB1 DAO DCTN1 DCTN4 DDB1 DEAF1 DEPDC5 DISP1 DLAT DLL1 DLST DNAJC30 DNAJC6 DNMT3A DPH1 DRD2 DUSP6 DYRK1A EDNRA EHMT1 EIF2AK1 EIF4H ELN EMC10 EPAS1 EPCAM EPHA4 ERBB4 ESPN FA2H FAN1 FGF17 FGF8 FGFR1 FH FIG4 FKBP6 FLII FLT4 FMO3 FMR1 FOXH1 FOXP1 FRMD5 FTSJ1 FUS FUZ GABRA1 GABRB3 GABRD GABRG2 GALT GAS1 GCH1 GCLC GLA GLE1 GLI2 GLT8D1 GM2A GNA11 GNAS GNB1 GNRH1 GNRHR GP1BB GPR101 GRIK2 GRIN2A GRN GSTM3 GTF2I GTF2IRD1 GTF2IRD2 H1-4 HARS1 HCN1 HDAC8 HEXB HFE HIRA HIVEP2 HLA-DQA1 HLA-DQB1 HMBS HMOX1 HNRNPA1 HNRNPH2 HS6ST1 HSPG2 HTR2A HTRA1 HTRA2 HTT IFNG IGF1R IMPDH2 IQSEC2 JMJD1C JPH3 JRK KANSL1 KCNN2 KCNN4 KCNT1 KCTD17 KIF1B KISS1 KISS1R KMT2A KMT2B KMT2E KPTN KRAS LARP7 LGI3 LIMK1 LRRK2 MAMLD1 MAN2B1 MAPK1 MAPT MATR3 MAX MBD5 MDH2 MECP2 MED12L MEN1 METTL27 MIF MIR17HG MLH1 MLH3 MLXIPL MMP1 MSH2 MSH6 MSTO1 MYO7A NAGS NCF1 ND1 ND4 ND5 ND6 NDP NEFH NEK1 NEXMIF NF1 NFASC NFIB NFIX NIPBL NKX2-1 NODAL NONO NOTCH3 NR3C1 NR4A2 NSD1 NSD2 NSMF OCRL OPTN PAK3 PARK7 PCDH15 PCDH19 PDE10A PDE11A PDGFB PDGFRB PDZD7 PFN1 PHF21A PHIP PIK3CA PINK1 PLCH1 PMS1 PMS2 PODXL POGZ POLG POLG2 PON1 PON2 PON3 PPARGC1A PPM1D PPOX PPP1CB PPP2R2B PQBP1 PRKAR1A PRKAR1B PRKN PRNP PROK2 PROKR2 PRPH PRR12 PRRT2 PSEN1 PSMD12 PTCH1 PURA RAD21 RAI1 RET RFC2 RIMS2 RLIM RNF125 RPS20 RREB1 RRM2B SATB2 SCN1A SCN1B SCN2A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEMA4A SERPINA1 SETBP1 SETD1A SETD1B SETD2 SETD5 SGCE SHH SHQ1 SIN3A SIX3 SLC11A1 SLC25A11 SLC25A4 SLC26A9 SLC2A1 SLC2A3 SLC35C1 SLC45A1 SLC6A14 SLC6A19 SLC6A4 SLC7A6OS SLC9A3 SMC1A SMC3 SNCA SNRPN SOD1 SOX5 SPART SPECC1L SPRY4 SPTBN1 SQSTM1 SRCAP SRPX2 STAG2 STEEP1 STIL STUB1 STX16 STX1A STX1B SYNJ1 TAC3 TACR3 TAF1 TAF15 TANC2 TARDBP TBK1 TBL2 TBX1 TCF12 TCF20 TDGF1 TERT TET3 TGFB1 TGFBR2 TGIF1 THOC2 TLK2 TLR7 TMCO1 TMEM106B TMEM127 TMEM147 TMEM270 TOR1A TP53 TREM2 TREX1 TRIP12 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 TTC19 TWNK UBQLN2 UCHL1 UFD1 UNC13A UQCRC1 USH1C USH1G USH2A VAPB VCP VHL VPS13A VPS13C VPS37D WAC WARS2 WDR11 WFS1 WHRN XK YWHAG YY1 ZBTB20 ZIC2 ZNRF3

Diseases (239) :OMIM:619719 OMIM:300387 OMIM:606703 OMIM:619651 ORPHA:36387 ORPHA:231178 ORPHA:404448 ORPHA:963 ORPHA:100924 ORPHA:79101 OMIM:271980 OMIM:619031 ORPHA:803 OMIM:619467 ORPHA:821 ORPHA:95706 OMIM:617808 ORPHA:231183 ORPHA:567 OMIM:617796 OMIM:128235 ORPHA:71517 ORPHA:904 OMIM:618092 ORPHA:440437 ORPHA:529962 ORPHA:199 ORPHA:401901 ORPHA:100070 ORPHA:98784 OMIM:141500 ORPHA:64280 ORPHA:428 ORPHA:892 OMIM:619841 OMIM:618929 ORPHA:231169 ORPHA:1501 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:586 ORPHA:432 OMIM:615032 OMIM:617600 OMIM:619512 ORPHA:485350 OMIM:300114 OMIM:204200 ORPHA:228346 ORPHA:228360 ORPHA:2116 ORPHA:89842 ORPHA:79408 OMIM:167870 ORPHA:227510 ORPHA:98933 ORPHA:550 OMIM:121300 OMIM:168605 OMIM:619426 ORPHA:819 ORPHA:79244 ORPHA:29072 ORPHA:2828 ORPHA:276621 ORPHA:404443 ORPHA:459061 ORPHA:36899 ORPHA:268261 ORPHA:464311 ORPHA:96147 OMIM:618878 OMIM:194050 OMIM:619264 ORPHA:144 ORPHA:329308 OMIM:618780 ORPHA:468726 ORPHA:908 OMIM:300623 ORPHA:93256 ORPHA:449291 ORPHA:391372 OMIM:613670 OMIM:620094 OMIM:309549 ORPHA:1136 ORPHA:33069 ORPHA:1945 ORPHA:79239 ORPHA:98808 ORPHA:324 ORPHA:309246 OMIM:219080 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:616973 OMIM:619580 ORPHA:98818 OMIM:617537 ORPHA:309169 OMIM:616977 OMIM:212750 OMIM:123400 ORPHA:79276 OMIM:176000 OMIM:300986 ORPHA:800 OMIM:164230 OMIM:600142 ORPHA:399 ORPHA:805 OMIM:270450 OMIM:606438 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619725 OMIM:616398 ORPHA:319182 ORPHA:589618 OMIM:618512 ORPHA:397612 OMIM:615637 OMIM:615071 ORPHA:319671 OMIM:620007 ORPHA:309288 ORPHA:309282 OMIM:619087 OMIM:156200 OMIM:300260 OMIM:618872 ORPHA:97279 ORPHA:391646 ORPHA:502423 OMIM:617675 ORPHA:927 ORPHA:649 OMIM:300912 OMIM:618356 OMIM:618286 ORPHA:420179 OMIM:614753 OMIM:118700 ORPHA:466791 ORPHA:136 OMIM:615962 OMIM:619695 ORPHA:534 OMIM:300558 OMIM:606324 ORPHA:101039 ORPHA:494541 OMIM:610475 OMIM:615483 OMIM:616592 OMIM:618725 OMIM:617991 OMIM:605909 OMIM:616364 ORPHA:254892 OMIM:619425 OMIM:617450 ORPHA:79473 OMIM:617506 OMIM:604326 OMIM:309500 OMIM:610489 ORPHA:412066 ORPHA:280397 OMIM:603218 ORPHA:282166 OMIM:619539 OMIM:602066 ORPHA:438216 ORPHA:1713 OMIM:618970 OMIM:300978 OMIM:616260 OMIM:613077 ORPHA:251019 OMIM:115310 OMIM:605373 OMIM:168000 OMIM:616078 OMIM:619056 OMIM:619000 OMIM:616831 ORPHA:404440 OMIM:159900 OMIM:619922 OMIM:613406 OMIM:266265 OMIM:617532 OMIM:619191 ORPHA:177907 ORPHA:313892 OMIM:616803 ORPHA:101000 OMIM:145420 OMIM:619475 ORPHA:2044 ORPHA:521258 OMIM:301013 OMIM:618093 OMIM:300966 OMIM:618906 ORPHA:1727 OMIM:619718 OMIM:618430 OMIM:618798 OMIM:300957 ORPHA:457240 OMIM:618050 OMIM:301080 OMIM:213980 OMIM:620075 ORPHA:247691 OMIM:617752 OMIM:615157 OMIM:619279 ORPHA:329478 ORPHA:2388 OMIM:200150 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:619738 ORPHA:411590 OMIM:614296 OMIM:300842 OMIM:617665 ORPHA:506358 OMIM:617557 OMIM:259050

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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