Human Phenotype Ontology

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:0000716	HP:0000716	Depression	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0000716	HP:0000716	Depression	0	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.	3
HP:0000716	HP:0000716	Depression	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	146
HP:0000716	HP:0000716	Depression	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	111
HP:0000716	HP:0000716	Depression	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:0000716	HP:0000716	Depression	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0000716	HP:0000716	Depression	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040284 - Very rare	86
HP:0000716	HP:0000716	Depression	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0000716	HP:0000716	Depression	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0000716	HP:0000716	Depression	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0000716	HP:0000716	Depression	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency	.	44
HP:0000716	HP:0000716	Depression	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0000716	HP:0000716	Depression	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0000716	HP:0000716	Depression	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000716	HP:0000716	Depression	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	HP:0040283 - Occasional	6
HP:0000716	HP:0000716	Depression	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0000716	HP:0000716	Depression	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	.	7
HP:0000716	HP:0000716	Depression	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent	7
HP:0000716	HP:0000716	Depression	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0000716	HP:0000716	Depression	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000716	HP:0000716	Depression	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040284 - Very rare	100
HP:0000716	HP:0000716	Depression	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0000716	HP:0000716	Depression	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040283 - Occasional	150
HP:0000716	HP:0000716	Depression	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0000716	HP:0000716	Depression	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	144
HP:0000716	HP:0000716	Depression	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0000716	HP:0000716	Depression	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	169
HP:0000716	HP:0000716	Depression	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0000716	HP:0000716	Depression	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional	9
HP:0000716	HP:0000716	Depression	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0000716	HP:0000716	Depression	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0000716	HP:0000716	Depression	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0000716	HP:0000716	Depression	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000716	HP:0000716	Depression	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0000716	HP:0000716	Depression	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000716	HP:0000716	Depression	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0000716	HP:0000716	Depression	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	385
HP:0000716	HP:0000716	Depression	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	276
HP:0000716	HP:0000716	Depression	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0000716	HP:0000716	Depression	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0000716	HP:0000716	Depression	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0000716	HP:0000716	Depression	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0000716	HP:0000716	Depression	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040283 - Occasional	56
HP:0000716	HP:0000716	Depression	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	56
HP:0000716	HP:0000716	Depression	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	94
HP:0000716	HP:0000716	Depression	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0000716	HP:0000716	Depression	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	75
HP:0000716	HP:0000716	Depression	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000716	HP:0000716	Depression	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	272
HP:0000716	HP:0000716	Depression	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0000716	HP:0000716	Depression	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	636
HP:0000716	HP:0000716	Depression	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	636
HP:0000716	HP:0000716	Depression	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0000716	HP:0000716	Depression	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0000716	HP:0000716	Depression	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0000716	HP:0000716	Depression	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0000716	HP:0000716	Depression	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0000716	HP:0000716	Depression	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0000716	HP:0000716	Depression	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0000716	HP:0000716	Depression	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0000716	HP:0000716	Depression	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0000716	HP:0000716	Depression	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional	9
HP:0000716	HP:0000716	Depression	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0000716	HP:0000716	Depression	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0000716	HP:0000716	Depression	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0000716	HP:0000716	Depression	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0000716	HP:0000716	Depression	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	515
HP:0000716	HP:0000716	Depression	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0000716	HP:0000716	Depression	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	42
HP:0000716	HP:0000716	Depression	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	188
HP:0000716	HP:0000716	Depression	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	225
HP:0000716	HP:0000716	Depression	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	88
HP:0000716	HP:0000716	Depression	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	15
HP:0000716	HP:0000716	Depression	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2	.	3
HP:0000716	HP:0000716	Depression	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0000716	HP:0000716	Depression	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0000716	HP:0000716	Depression	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0000716	HP:0000716	Depression	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0000716	HP:0000716	Depression	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0000716	HP:0000716	Depression	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional	60
HP:0000716	HP:0000716	Depression	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0000716	HP:0000716	Depression	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0000716	HP:0000716	Depression	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent	263
HP:0000716	HP:0000716	Depression	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000716	HP:0000716	Depression	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0000716	HP:0000716	Depression	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0000716	HP:0000716	Depression	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0000716	HP:0000716	Depression	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	1
HP:0000716	HP:0000716	Depression	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0000716	HP:0000716	Depression	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0000716	HP:0000716	Depression	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0000716	HP:0000716	Depression	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0000716	HP:0000716	Depression	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040281 - Very frequent	86
HP:0000716	HP:0000716	Depression	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0000716	HP:0000716	Depression	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0000716	HP:0000716	Depression	0	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare	172
HP:0000716	HP:0000716	Depression	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	172
HP:0000716	HP:0000716	Depression	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional	57
HP:0000716	HP:0000716	Depression	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0000716	HP:0000716	Depression	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0000716	HP:0000716	Depression	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0000716	HP:0000716	Depression	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0000716	HP:0000716	Depression	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0000716	HP:0000716	Depression	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0000716	HP:0000716	Depression	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0000716	HP:0000716	Depression	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0000716	HP:0000716	Depression	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0000716	HP:0000716	Depression	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0000716	HP:0000716	Depression	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0000716	HP:0000716	Depression	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	6
HP:0000716	HP:0000716	Depression	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0000716	HP:0000716	Depression	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0000716	HP:0000716	Depression	0	DRD2 CL E G H	1813	3023	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	16
HP:0000716	HP:0000716	Depression	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	4
HP:0000716	HP:0000716	Depression	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0000716	HP:0000716	Depression	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0000716	HP:0000716	Depression	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0000716	HP:0000716	Depression	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000716	HP:0000716	Depression	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	170
HP:0000716	HP:0000716	Depression	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0000716	HP:0000716	Depression	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0000716	HP:0000716	Depression	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0000716	HP:0000716	Depression	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	33
HP:0000716	HP:0000716	Depression	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040284 - Very rare	76
HP:0000716	HP:0000716	Depression	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	15
HP:0000716	HP:0000716	Depression	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0000716	HP:0000716	Depression	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional	47
HP:0000716	HP:0000716	Depression	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0000716	HP:0000716	Depression	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0000716	HP:0000716	Depression	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0000716	HP:0000716	Depression	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0000716	HP:0000716	Depression	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	17
HP:0000716	HP:0000716	Depression	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0000716	HP:0000716	Depression	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0000716	HP:0000716	Depression	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	172
HP:0000716	HP:0000716	Depression	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0000716	HP:0000716	Depression	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0000716	HP:0000716	Depression	0	FKBP5 CL E G H	2289	3721	OMIM:608516	Major depressive disorder		2
HP:0000716	HP:0000716	Depression	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0000716	HP:0000716	Depression	0	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria	HP:0040283 - Occasional	55
HP:0000716	HP:0000716	Depression	0	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0000716	HP:0000716	Depression	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0000716	HP:0000716	Depression	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0000716	HP:0000716	Depression	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional	30
HP:0000716	HP:0000716	Depression	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0000716	HP:0000716	Depression	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0000716	HP:0000716	Depression	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0000716	HP:0000716	Depression	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0000716	HP:0000716	Depression	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0000716	HP:0000716	Depression	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0000716	HP:0000716	Depression	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	134
HP:0000716	HP:0000716	Depression	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	57
HP:0000716	HP:0000716	Depression	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	139
HP:0000716	HP:0000716	Depression	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	139
HP:0000716	HP:0000716	Depression	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0000716	HP:0000716	Depression	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0000716	HP:0000716	Depression	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0000716	HP:0000716	Depression	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0000716	HP:0000716	Depression	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0000716	HP:0000716	Depression	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0000716	HP:0000716	Depression	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0000716	HP:0000716	Depression	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0000716	HP:0000716	Depression	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0000716	HP:0000716	Depression	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0000716	HP:0000716	Depression	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0000716	HP:0000716	Depression	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0000716	HP:0000716	Depression	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0000716	HP:0000716	Depression	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0000716	HP:0000716	Depression	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0000716	HP:0000716	Depression	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0000716	HP:0000716	Depression	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0000716	HP:0000716	Depression	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000716	HP:0000716	Depression	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	16
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent	101
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0000716	HP:0000716	Depression	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	15
HP:0000716	HP:0000716	Depression	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	92
HP:0000716	HP:0000716	Depression	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000716	HP:0000716	Depression	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent	5
HP:0000716	HP:0000716	Depression	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0000716	HP:0000716	Depression	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0000716	HP:0000716	Depression	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	434
HP:0000716	HP:0000716	Depression	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	126
HP:0000716	HP:0000716	Depression	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040284 - Very rare	53
HP:0000716	HP:0000716	Depression	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0000716	HP:0000716	Depression	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000716	HP:0000716	Depression	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000716	HP:0000716	Depression	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000716	HP:0000716	Depression	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0000716	HP:0000716	Depression	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000716	HP:0000716	Depression	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent	4
HP:0000716	HP:0000716	Depression	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000716	HP:0000716	Depression	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000716	HP:0000716	Depression	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0000716	HP:0000716	Depression	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0000716	HP:0000716	Depression	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent	2
HP:0000716	HP:0000716	Depression	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.	2
HP:0000716	HP:0000716	Depression	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0000716	HP:0000716	Depression	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0000716	HP:0000716	Depression	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0000716	HP:0000716	Depression	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0000716	HP:0000716	Depression	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	8
HP:0000716	HP:0000716	Depression	0	HTR2A CL E G H	3356	5293	OMIM:608516	Major depressive disorder		4
HP:0000716	HP:0000716	Depression	0	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1		4
HP:0000716	HP:0000716	Depression	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	39
HP:0000716	HP:0000716	Depression	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0000716	HP:0000716	Depression	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.	12
HP:0000716	HP:0000716	Depression	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent	12
HP:0000716	HP:0000716	Depression	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0000716	HP:0000716	Depression	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0000716	HP:0000716	Depression	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0000716	HP:0000716	Depression	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000716	HP:0000716	Depression	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.	2
HP:0000716	HP:0000716	Depression	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000716	HP:0000716	Depression	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0000716	HP:0000716	Depression	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	321
HP:0000716	HP:0000716	Depression	0	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5	.	321
HP:0000716	HP:0000716	Depression	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.	1
HP:0000716	HP:0000716	Depression	0	KCTD17 CL E G H	79734	25705	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0000716	HP:0000716	Depression	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	14
HP:0000716	HP:0000716	Depression	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0000716	HP:0000716	Depression	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	196
HP:0000716	HP:0000716	Depression	0	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare	75
HP:0000716	HP:0000716	Depression	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0000716	HP:0000716	Depression	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0000716	HP:0000716	Depression	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	221
HP:0000716	HP:0000716	Depression	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5
HP:0000716	HP:0000716	Depression	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0000716	HP:0000716	Depression	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0000716	HP:0000716	Depression	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000716	HP:0000716	Depression	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0000716	HP:0000716	Depression	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	140
HP:0000716	HP:0000716	Depression	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040282 - Frequent	140
HP:0000716	HP:0000716	Depression	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0000716	HP:0000716	Depression	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.	950
HP:0000716	HP:0000716	Depression	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0000716	HP:0000716	Depression	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000716	HP:0000716	Depression	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0000716	HP:0000716	Depression	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1819
HP:0000716	HP:0000716	Depression	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	131
HP:0000716	HP:0000716	Depression	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000716	HP:0000716	Depression	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040282 - Frequent	6
HP:0000716	HP:0000716	Depression	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2162
HP:0000716	HP:0000716	Depression	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2232
HP:0000716	HP:0000716	Depression	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0000716	HP:0000716	Depression	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0000716	HP:0000716	Depression	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	516
HP:0000716	HP:0000716	Depression	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	516
HP:0000716	HP:0000716	Depression	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000716	HP:0000716	Depression	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0000716	HP:0000716	Depression	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0000716	HP:0000716	Depression	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0000716	HP:0000716	Depression	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0000716	HP:0000716	Depression	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0000716	HP:0000716	Depression	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0000716	HP:0000716	Depression	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0000716	HP:0000716	Depression	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0000716	HP:0000716	Depression	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	14
HP:0000716	HP:0000716	Depression	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	79
HP:0000716	HP:0000716	Depression	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0000716	HP:0000716	Depression	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0000716	HP:0000716	Depression	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0000716	HP:0000716	Depression	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0000716	HP:0000716	Depression	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0000716	HP:0000716	Depression	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent	3
HP:0000716	HP:0000716	Depression	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040282 - Frequent	641
HP:0000716	HP:0000716	Depression	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0000716	HP:0000716	Depression	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0000716	HP:0000716	Depression	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	23
HP:0000716	HP:0000716	Depression	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	352
HP:0000716	HP:0000716	Depression	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.	1
HP:0000716	HP:0000716	Depression	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0000716	HP:0000716	Depression	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0000716	HP:0000716	Depression	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0000716	HP:0000716	Depression	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0000716	HP:0000716	Depression	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0000716	HP:0000716	Depression	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0000716	HP:0000716	Depression	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4	.	28
HP:0000716	HP:0000716	Depression	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0000716	HP:0000716	Depression	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	40
HP:0000716	HP:0000716	Depression	0	PER2 CL E G H	8864	8846	OMIM:604348	Advanced sleep phase syndrome, familial, 1	.	2
HP:0000716	HP:0000716	Depression	0	PER3 CL E G H	8863	8847	OMIM:616882	Advanced sleep phase syndrome, familial, 3	.	3
HP:0000716	HP:0000716	Depression	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0000716	HP:0000716	Depression	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	162
HP:0000716	HP:0000716	Depression	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0000716	HP:0000716	Depression	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	55
HP:0000716	HP:0000716	Depression	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040283 - Occasional	133
HP:0000716	HP:0000716	Depression	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0000716	HP:0000716	Depression	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0000716	HP:0000716	Depression	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	56
HP:0000716	HP:0000716	Depression	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1121
HP:0000716	HP:0000716	Depression	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	6
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional	464
HP:0000716	HP:0000716	Depression	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0000716	HP:0000716	Depression	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B		45
HP:0000716	HP:0000716	Depression	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0000716	HP:0000716	Depression	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0000716	HP:0000716	Depression	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0000716	HP:0000716	Depression	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	172
HP:0000716	HP:0000716	Depression	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0000716	HP:0000716	Depression	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0000716	HP:0000716	Depression	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0000716	HP:0000716	Depression	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0000716	HP:0000716	Depression	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0000716	HP:0000716	Depression	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	138
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent	69
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.	69
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent	69
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0000716	HP:0000716	Depression	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	9
HP:0000716	HP:0000716	Depression	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0000716	HP:0000716	Depression	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0000716	HP:0000716	Depression	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0000716	HP:0000716	Depression	0	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0000716	HP:0000716	Depression	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	241
HP:0000716	HP:0000716	Depression	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0000716	HP:0000716	Depression	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0000716	HP:0000716	Depression	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0000716	HP:0000716	Depression	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0000716	HP:0000716	Depression	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent	3
HP:0000716	HP:0000716	Depression	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0000716	HP:0000716	Depression	0	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare	334
HP:0000716	HP:0000716	Depression	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0000716	HP:0000716	Depression	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0000716	HP:0000716	Depression	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	.	125
HP:0000716	HP:0000716	Depression	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0000716	HP:0000716	Depression	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	48
HP:0000716	HP:0000716	Depression	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0000716	HP:0000716	Depression	0	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.	49
HP:0000716	HP:0000716	Depression	0	SGCE CL E G H	8910	10808	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	49
HP:0000716	HP:0000716	Depression	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0000716	HP:0000716	Depression	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0000716	HP:0000716	Depression	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0000716	HP:0000716	Depression	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0000716	HP:0000716	Depression	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0000716	HP:0000716	Depression	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0000716	HP:0000716	Depression	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0000716	HP:0000716	Depression	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0000716	HP:0000716	Depression	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	255
HP:0000716	HP:0000716	Depression	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0000716	HP:0000716	Depression	0	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1		52
HP:0000716	HP:0000716	Depression	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0000716	HP:0000716	Depression	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0000716	HP:0000716	Depression	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0000716	HP:0000716	Depression	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0000716	HP:0000716	Depression	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0000716	HP:0000716	Depression	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0000716	HP:0000716	Depression	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	65
HP:0000716	HP:0000716	Depression	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0000716	HP:0000716	Depression	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0000716	HP:0000716	Depression	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0000716	HP:0000716	Depression	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	5
HP:0000716	HP:0000716	Depression	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000716	HP:0000716	Depression	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0000716	HP:0000716	Depression	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0000716	HP:0000716	Depression	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	50
HP:0000716	HP:0000716	Depression	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0000716	HP:0000716	Depression	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0000716	HP:0000716	Depression	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0000716	HP:0000716	Depression	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0000716	HP:0000716	Depression	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0000716	HP:0000716	Depression	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0000716	HP:0000716	Depression	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0000716	HP:0000716	Depression	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	9
HP:0000716	HP:0000716	Depression	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0000716	HP:0000716	Depression	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0000716	HP:0000716	Depression	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0000716	HP:0000716	Depression	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0000716	HP:0000716	Depression	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4
HP:0000716	HP:0000716	Depression	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0000716	HP:0000716	Depression	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0000716	HP:0000716	Depression	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0000716	HP:0000716	Depression	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0000716	HP:0000716	Depression	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000716	HP:0000716	Depression	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0000716	HP:0000716	Depression	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000716	HP:0000716	Depression	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0000716	HP:0000716	Depression	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	253
HP:0000716	HP:0000716	Depression	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0000716	HP:0000716	Depression	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0000716	HP:0000716	Depression	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0000716	HP:0000716	Depression	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0000716	HP:0000716	Depression	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.	47
HP:0000716	HP:0000716	Depression	0	TOR1A CL E G H	1861	3098	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	47
HP:0000716	HP:0000716	Depression	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	911
HP:0000716	HP:0000716	Depression	0	TPH2 CL E G H	121278	20692	OMIM:613003	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7		31
HP:0000716	HP:0000716	Depression	0	TPH2 CL E G H	121278	20692	OMIM:608516	Major depressive disorder		31
HP:0000716	HP:0000716	Depression	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0000716	HP:0000716	Depression	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	31
HP:0000716	HP:0000716	Depression	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0000716	HP:0000716	Depression	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0000716	HP:0000716	Depression	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0000716	HP:0000716	Depression	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000716	HP:0000716	Depression	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0000716	HP:0000716	Depression	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0000716	HP:0000716	Depression	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040284 - Very rare	9
HP:0000716	HP:0000716	Depression	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0000716	HP:0000716	Depression	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0000716	HP:0000716	Depression	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0000716	HP:0000716	Depression	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0000716	HP:0000716	Depression	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional	113
HP:0000716	HP:0000716	Depression	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0000716	HP:0000716	Depression	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	21
HP:0000716	HP:0000716	Depression	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000716	HP:0000716	Depression	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0000716	HP:0000716	Depression	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	173
HP:0000716	HP:0000716	Depression	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	78
HP:0000716	HP:0000716	Depression	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	777
HP:0000716	HP:0000716	Depression	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	1
HP:0000716	HP:0000716	Depression	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	7
HP:0000716	HP:0000716	Depression	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0000716	HP:0000716	Depression	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0000716	HP:0000716	Depression	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63
HP:0000716	HP:0000716	Depression	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0000716	HP:0000716	Depression	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0000716	HP:0000716	Depression	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	63
HP:0000716	HP:0000716	Depression	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0000716	HP:0000716	Depression	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	8
HP:0000716	HP:0000716	Depression	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0000716	HP:0000716	Depression	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000716	HP:0000716	Depression	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0000716	HP:0000716	Depression	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	10
HP:0000716	HP:0000716	Depression	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040281 - Very frequent	389
HP:0000716	HP:0000716	Depression	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant	.	389
HP:0000716	HP:0000716	Depression	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	155
HP:0000716	HP:0000716	Depression	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.	8
HP:0000716	HP:0000716	Depression	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.	4
HP:0000716	HP:0000716	Depression	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0000716	HP:0000716	Depression	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0000716	HP:0000716	Depression	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0000716	HP:0000716	Depression	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34