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:0000474	HP:0000474	Thickened nuchal skin fold	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	415
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	56
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	42
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	151
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	126
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	140
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	169
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	75
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	4
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	65
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	66
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	46
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	59
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	62
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	82
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	106
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	47
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	99
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	98
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent	27
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	241
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent	166
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	31
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent	133
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0000474	HP:0000474	Thickened nuchal skin fold	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	63