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:0012640	HP:0012640	Abnormality of intracranial pressure	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	ALX4 CL E G H	60529	450	ORPHA:35093	Isolated scaphocephaly		132
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia		272
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation		37
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	ERF CL E G H	2077	3444	ORPHA:35093	Isolated scaphocephaly		12
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome		145
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly		145
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome		145
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency		23
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia		16
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation		92
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius		134
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome		125
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation		21
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease		948
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly		28
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly		18
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	TWIST1 CL E G H	7291	12428	ORPHA:35093	Isolated scaphocephaly		18
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0012640	HP:0012640	Abnormality of intracranial pressure	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly		5
HP:0012640	HP:0012641	Decreased intracranial pressure	1	CL E G H
HP:0012640	HP:0002516	Increased intracranial pressure	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0012640	HP:0002516	Increased intracranial pressure	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0012640	HP:0002516	Increased intracranial pressure	1	ALX4 CL E G H	60529	450	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	132
HP:0012640	HP:0002516	Increased intracranial pressure	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0012640	HP:0002516	Increased intracranial pressure	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0012640	HP:0002516	Increased intracranial pressure	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0012640	HP:0002516	Increased intracranial pressure	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	385
HP:0012640	HP:0002516	Increased intracranial pressure	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	276
HP:0012640	HP:0002516	Increased intracranial pressure	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0012640	HP:0002516	Increased intracranial pressure	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional	272
HP:0012640	HP:0002516	Increased intracranial pressure	1	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	37
HP:0012640	HP:0002516	Increased intracranial pressure	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	1
HP:0012640	HP:0002516	Increased intracranial pressure	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012640	HP:0002516	Increased intracranial pressure	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0012640	HP:0002516	Increased intracranial pressure	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	88
HP:0012640	HP:0002516	Increased intracranial pressure	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0012640	HP:0002516	Increased intracranial pressure	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0012640	HP:0002516	Increased intracranial pressure	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	HP:0040283 - Occasional	3
HP:0012640	HP:0002516	Increased intracranial pressure	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	170
HP:0012640	HP:0002516	Increased intracranial pressure	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0012640	HP:0002516	Increased intracranial pressure	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0012640	HP:0002516	Increased intracranial pressure	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0012640	HP:0002516	Increased intracranial pressure	1	ERF CL E G H	2077	3444	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	12
HP:0012640	HP:0002516	Increased intracranial pressure	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	15
HP:0012640	HP:0002516	Increased intracranial pressure	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0012640	HP:0002516	Increased intracranial pressure	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0012640	HP:0002516	Increased intracranial pressure	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040283 - Occasional	175
HP:0012640	HP:0002516	Increased intracranial pressure	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional	175
HP:0012640	HP:0002516	Increased intracranial pressure	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0012640	HP:0002516	Increased intracranial pressure	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0012640	HP:0002516	Increased intracranial pressure	1	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	145
HP:0012640	HP:0002516	Increased intracranial pressure	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0012640	HP:0002516	Increased intracranial pressure	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0012640	HP:0002516	Increased intracranial pressure	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0012640	HP:0002516	Increased intracranial pressure	1	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency	HP:0040283 - Occasional	23
HP:0012640	HP:0002516	Increased intracranial pressure	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional	16
HP:0012640	HP:0002516	Increased intracranial pressure	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0012640	HP:0002516	Increased intracranial pressure	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0012640	HP:0002516	Increased intracranial pressure	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0012640	HP:0002516	Increased intracranial pressure	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0012640	HP:0002516	Increased intracranial pressure	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012640	HP:0002516	Increased intracranial pressure	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012640	HP:0002516	Increased intracranial pressure	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0012640	HP:0002516	Increased intracranial pressure	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0012640	HP:0002516	Increased intracranial pressure	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0012640	HP:0002516	Increased intracranial pressure	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0012640	HP:0002516	Increased intracranial pressure	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012640	HP:0002516	Increased intracranial pressure	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	196
HP:0012640	HP:0002516	Increased intracranial pressure	1	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	92
HP:0012640	HP:0002516	Increased intracranial pressure	1	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040281 - Very frequent	134
HP:0012640	HP:0002516	Increased intracranial pressure	1	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional	125
HP:0012640	HP:0002516	Increased intracranial pressure	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0012640	HP:0002516	Increased intracranial pressure	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1819
HP:0012640	HP:0002516	Increased intracranial pressure	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	131
HP:0012640	HP:0002516	Increased intracranial pressure	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2162
HP:0012640	HP:0002516	Increased intracranial pressure	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2232
HP:0012640	HP:0002516	Increased intracranial pressure	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0012640	HP:0002516	Increased intracranial pressure	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0012640	HP:0002516	Increased intracranial pressure	1	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	21
HP:0012640	HP:0002516	Increased intracranial pressure	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0012640	HP:0002516	Increased intracranial pressure	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0012640	HP:0002516	Increased intracranial pressure	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0012640	HP:0002516	Increased intracranial pressure	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0012640	HP:0002516	Increased intracranial pressure	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0012640	HP:0002516	Increased intracranial pressure	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	162
HP:0012640	HP:0002516	Increased intracranial pressure	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0012640	HP:0002516	Increased intracranial pressure	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	56
HP:0012640	HP:0002516	Increased intracranial pressure	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1121
HP:0012640	HP:0002516	Increased intracranial pressure	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012640	HP:0002516	Increased intracranial pressure	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0012640	HP:0002516	Increased intracranial pressure	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0012640	HP:0002516	Increased intracranial pressure	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0012640	HP:0002516	Increased intracranial pressure	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040281 - Very frequent	948
HP:0012640	HP:0002516	Increased intracranial pressure	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	1
HP:0012640	HP:0002516	Increased intracranial pressure	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0012640	HP:0002516	Increased intracranial pressure	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0012640	HP:0002516	Increased intracranial pressure	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0012640	HP:0002516	Increased intracranial pressure	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0012640	HP:0002516	Increased intracranial pressure	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	48
HP:0012640	HP:0002516	Increased intracranial pressure	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0012640	HP:0002516	Increased intracranial pressure	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0012640	HP:0002516	Increased intracranial pressure	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0012640	HP:0002516	Increased intracranial pressure	1	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0012640	HP:0002516	Increased intracranial pressure	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0012640	HP:0002516	Increased intracranial pressure	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0012640	HP:0002516	Increased intracranial pressure	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0012640	HP:0002516	Increased intracranial pressure	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0012640	HP:0002516	Increased intracranial pressure	1	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	28
HP:0012640	HP:0002516	Increased intracranial pressure	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0012640	HP:0002516	Increased intracranial pressure	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	253
HP:0012640	HP:0002516	Increased intracranial pressure	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0012640	HP:0002516	Increased intracranial pressure	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0012640	HP:0002516	Increased intracranial pressure	1	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	18
HP:0012640	HP:0002516	Increased intracranial pressure	1	TWIST1 CL E G H	7291	12428	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	18
HP:0012640	HP:0002516	Increased intracranial pressure	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0012640	HP:0002516	Increased intracranial pressure	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012640	HP:0002516	Increased intracranial pressure	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0012640	HP:0002516	Increased intracranial pressure	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	490
HP:0012640	HP:0002516	Increased intracranial pressure	1	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	5