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:0003745	HP:0003745	Sporadic	0	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency	.
HP:0003745	HP:0003745	Sporadic	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.	22
HP:0003745	HP:0003745	Sporadic	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0003745	HP:0003745	Sporadic	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0003745	HP:0003745	Sporadic	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0003745	HP:0003745	Sporadic	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0003745	HP:0003745	Sporadic	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0003745	HP:0003745	Sporadic	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0003745	HP:0003745	Sporadic	0	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.	18
HP:0003745	HP:0003745	Sporadic	0	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.	247
HP:0003745	HP:0003745	Sporadic	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11	.	200
HP:0003745	HP:0003745	Sporadic	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0003745	HP:0003745	Sporadic	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0003745	HP:0003745	Sporadic	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0003745	HP:0003745	Sporadic	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0003745	HP:0003745	Sporadic	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0003745	HP:0003745	Sporadic	0	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to	.	3
HP:0003745	HP:0003745	Sporadic	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0003745	HP:0003745	Sporadic	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0003745	HP:0003745	Sporadic	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0003745	HP:0003745	Sporadic	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0003745	HP:0003745	Sporadic	0	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.	145
HP:0003745	HP:0003745	Sporadic	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0003745	HP:0003745	Sporadic	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0003745	HP:0003745	Sporadic	0	FLCN CL E G H	201163	27310	OMIM:144700	Renal cell carcinoma, nonpapillary	.	332
HP:0003745	HP:0003745	Sporadic	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0003745	HP:0003745	Sporadic	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.	177
HP:0003745	HP:0003745	Sporadic	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0003745	HP:0003745	Sporadic	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0003745	HP:0003745	Sporadic	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0003745	HP:0003745	Sporadic	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0003745	HP:0003745	Sporadic	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0003745	HP:0003745	Sporadic	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0003745	HP:0003745	Sporadic	0	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.	7
HP:0003745	HP:0003745	Sporadic	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0003745	HP:0003745	Sporadic	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	.	101
HP:0003745	HP:0003745	Sporadic	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	.	1
HP:0003745	HP:0003745	Sporadic	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0003745	HP:0003745	Sporadic	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.	38
HP:0003745	HP:0003745	Sporadic	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0003745	HP:0003745	Sporadic	0	HNF1A CL E G H	6927	11621	OMIM:144700	Renal cell carcinoma, nonpapillary	.	161
HP:0003745	HP:0003745	Sporadic	0	HNF1B CL E G H	6928	11630	OMIM:144700	Renal cell carcinoma, nonpapillary	.	90
HP:0003745	HP:0003745	Sporadic	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0003745	HP:0003745	Sporadic	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0003745	HP:0003745	Sporadic	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0003745	HP:0003745	Sporadic	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0003745	HP:0003745	Sporadic	0	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to	.	99
HP:0003745	HP:0003745	Sporadic	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0003745	HP:0003745	Sporadic	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0003745	HP:0003745	Sporadic	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.	327
HP:0003745	HP:0003745	Sporadic	0	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.	327
HP:0003745	HP:0003745	Sporadic	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0003745	HP:0003745	Sporadic	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0003745	HP:0003745	Sporadic	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0003745	HP:0003745	Sporadic	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.	63
HP:0003745	HP:0003745	Sporadic	0	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated	.	134
HP:0003745	HP:0003745	Sporadic	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0003745	HP:0003745	Sporadic	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0003745	HP:0003745	Sporadic	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0003745	HP:0003745	Sporadic	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.	5
HP:0003745	HP:0003745	Sporadic	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0003745	HP:0003745	Sporadic	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0003745	HP:0003745	Sporadic	0	MYC CL E G H	4609	7553	OMIM:113970	Burkitt lymphoma	.	11
HP:0003745	HP:0003745	Sporadic	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0003745	HP:0003745	Sporadic	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0003745	HP:0003745	Sporadic	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0003745	HP:0003745	Sporadic	0	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0003745	HP:0003745	Sporadic	0	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2	.	57
HP:0003745	HP:0003745	Sporadic	0	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2	.	57
HP:0003745	HP:0003745	Sporadic	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.	1
HP:0003745	HP:0003745	Sporadic	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0003745	HP:0003745	Sporadic	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.	102
HP:0003745	HP:0003745	Sporadic	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0003745	HP:0003745	Sporadic	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0003745	HP:0003745	Sporadic	0	OGG1 CL E G H	4968	8125	OMIM:144700	Renal cell carcinoma, nonpapillary	.	1
HP:0003745	HP:0003745	Sporadic	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0003745	HP:0003745	Sporadic	0	PBRM1 CL E G H	55193	30064	OMIM:144700	Renal cell carcinoma, nonpapillary	.	10
HP:0003745	HP:0003745	Sporadic	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0003745	HP:0003745	Sporadic	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0003745	HP:0003745	Sporadic	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	.	162
HP:0003745	HP:0003745	Sporadic	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0003745	HP:0003745	Sporadic	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0003745	HP:0003745	Sporadic	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0003745	HP:0003745	Sporadic	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0003745	HP:0003745	Sporadic	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0003745	HP:0003745	Sporadic	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0003745	HP:0003745	Sporadic	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0003745	HP:0003745	Sporadic	0	RNF139 CL E G H	11236	17023	OMIM:144700	Renal cell carcinoma, nonpapillary	.
HP:0003745	HP:0003745	Sporadic	0	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0003745	HP:0003745	Sporadic	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0003745	HP:0003745	Sporadic	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.	237
HP:0003745	HP:0003745	Sporadic	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.	147
HP:0003745	HP:0003745	Sporadic	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0003745	HP:0003745	Sporadic	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0003745	HP:0003745	Sporadic	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0003745	HP:0003745	Sporadic	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0003745	HP:0003745	Sporadic	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0003745	HP:0003745	Sporadic	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0003745	HP:0003745	Sporadic	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0003745	HP:0003745	Sporadic	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	HP:0040282 - Frequent	37
HP:0003745	HP:0003745	Sporadic	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.	37
HP:0003745	HP:0003745	Sporadic	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1	.	6
HP:0003745	HP:0003745	Sporadic	0	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.	740
HP:0003745	HP:0003745	Sporadic	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	.	86
HP:0003745	HP:0003745	Sporadic	0	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10	.	8
HP:0003745	HP:0003745	Sporadic	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0003745	HP:0003745	Sporadic	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0003745	HP:0003745	Sporadic	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0003745	HP:0003745	Sporadic	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0003745	HP:0003745	Sporadic	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0003745	HP:0003745	Sporadic	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.	97
HP:0003745	HP:0003745	Sporadic	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0003745	HP:0003745	Sporadic	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	HP:0040282 - Frequent	278
HP:0003745	HP:0003745	Sporadic	0	VHL CL E G H	7428	12687	OMIM:144700	Renal cell carcinoma, nonpapillary	.	490
HP:0003745	HP:0003745	Sporadic	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17