Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	AAAS CL E G H	8086	869				ORPHA	1	187	13666	605378
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	AAGAB CL E G H	79719	79501				ORPHA	1	91	25662	614888
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ABCA12 CL E G H	26154	79394				ORPHA	1	381	14637	607800
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1	381	14637	607800
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	AKT1 CL E G H	207	201				ORPHA	1	634	391	164730
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ALOX12B CL E G H	242	79394				ORPHA	1	298	430	603741
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	298	430	603741
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ALOXE3 CL E G H	59344	79394				ORPHA	1	218	13743	607206
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	218	13743	607206
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ATP2A2 CL E G H	488	218				ORPHA	1	189	812	108740
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	948	1097	164757
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CARD14 CL E G H	79092	2897	Hypogonadism, isolated, hypogonadotropic			ORPHA	1	796	16446	607211
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CARD14 CL E G H	79092	173200	Pityriasis rubra pilaris	173200	C0032027	OMIM	1	796	16446	607211
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CAST CL E G H	831	616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	616295	C4225381	OMIM	1	135	1515	114090
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CD28 CL E G H	940	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	33	1653	186760
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CERS3 CL E G H	204219	79394				ORPHA	1	171	23752	615276
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	COL14A1 CL E G H	7373	79501				ORPHA	1	163	2191	120324
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CSTA CL E G H	1475	607936	Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like	607936	C1842797	OMIM	1	34	2481	184600
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CTLA4 CL E G H	1493	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	190	2505	123890
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CTSC CL E G H	1075	678				ORPHA	1	268	2528	602365
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DSC2 CL E G H	1824	610476	Arrhythmogenic right ventricular cardiomyopathy, type 11	610476	C1864850	OMIM	1	1242	3036	125645
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DSG1 CL E G H	1828	50942				ORPHA	1	408	3048	125670
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	408	3048	125670
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DSG1 CL E G H	1828	148700	Keratosis palmoplantaris striata 1	148700	C2931122	OMIM	1	408	3048	125670
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DSP CL E G H	1832	50942				ORPHA	1	3384	3052	125647
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DSP CL E G H	1832	615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	615821	C4014393	OMIM	1	3384	3052	125647
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DSP CL E G H	1832	605676	Dilated cardiomyopathy with woolly hair and keratoderma	605676	C1854063	OMIM	1	3384	3052	125647
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DSP CL E G H	1832	612908	Keratosis palmoplantaris striata II	612908	C1852127	OMIM	1	3384	3052	125647
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ENPP1 CL E G H	5167	615522	Cole disease	615522	C3809781	OMIM	1	438	3356	173335
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	FERMT1 CL E G H	55612	2908				ORPHA	1	421	15889	607900
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	FGFR2 CL E G H	2263	1555				ORPHA	1	567	3689	176943
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJA1 CL E G H	2697	1010				ORPHA	1	221	4274	121014
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJA1 CL E G H	2697	104100	Alopecia congenita keratosis palmoplantaris	104100	C1863093	OMIM	1	221	4274	121014
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJA1 CL E G H	2697	617525	Erythrokeratodermia variabilis et progressiva 3	617525	C4479619	OMIM	1	221	4274	121014
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJB2 CL E G H	2706	477				ORPHA	1	516	4284	121011
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJB2 CL E G H	2706	2698				ORPHA	1	516	4284	121011
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJB2 CL E G H	2706	2202	Exostoses anetodermia brachydactyly type E			ORPHA	1	516	4284	121011
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJB2 CL E G H	2706	602540	Hystrix-like ichthyosis with deafness	602540	C1865234	OMIM	1	516	4284	121011
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJB4 CL E G H	127534	617524	Erythrokeratodermia variabilis et progressiva 2	617524	C4479618	OMIM	1	64	4286	605425
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJB6 CL E G H	10804	477				ORPHA	1	235	4288	604418
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	235	4288	604418
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GMPPA CL E G H	29926	869				ORPHA	1	118	22923	615495
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	JUP CL E G H	3728	34217				ORPHA	1	892	6207	173325
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	JUP CL E G H	3728	601214	Naxos disease	601214	C1832600	OMIM	1	892	6207	173325
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KANK2 CL E G H	25959	616099	Palmoplantar keratoderma and woolly hair	616099	C4015202	OMIM	1	122	29300	614610
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KDSR CL E G H	2531	316	Sacral agenesis			ORPHA	1	99	4021	136440
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KLLN CL E G H	100144748	201				ORPHA	1	316	37212	612105
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	440	6407	190070
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT1 CL E G H	3848	50942				ORPHA	1	155	6412	139350
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT1 CL E G H	3848	2199	Exencephaly			ORPHA	1	155	6412	139350
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT1 CL E G H	3848	607654	Keratosis palmoplantaris striata 3	607654	C2931123	OMIM	1	155	6412	139350
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT14 CL E G H	3861	79397				ORPHA	1	167	6416	148066
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT14 CL E G H	3861	79399				ORPHA	1	167	6416	148066
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT14 CL E G H	3861	89838				ORPHA	1	167	6416	148066
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT14 CL E G H	3861	79396				ORPHA	1	167	6416	148066
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT14 CL E G H	3861	161000	Naegeli-Franceschetti-Jadassohn syndrome	161000	C0343111	OMIM	1	167	6416	148066
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT16 CL E G H	3868	2199	Exencephaly			ORPHA	1	72	6423	148067
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	1	72	6423	148067
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT16 CL E G H	3868	613000	Palmoplantar keratoderma, nonepidermolytic, focal	613000	C2931923	OMIM	1	72	6423	148067
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	1	69	6427	148069
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT2 CL E G H	3849	455				ORPHA	1	125	6439	600194
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT5 CL E G H	3852	79397				ORPHA	1	258	6442	148040
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT5 CL E G H	3852	79399				ORPHA	1	258	6442	148040
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT5 CL E G H	3852	79396				ORPHA	1	258	6442	148040
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	1	93	6443	148041
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT6A CL E G H	3853	615726	Pachyonychia congenita 3	615726	C3714948	OMIM	1	93	6443	148041
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	1	56	6444	148042
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT6B CL E G H	3854	615728	Pachyonychia congenita 4	615728	C3714949	OMIM	1	56	6444	148042
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT6C CL E G H	286887	615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	615735	C3810394	OMIM	1	56	20406	612315
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT83 CL E G H	3889	316	Sacral agenesis			ORPHA	1	125	6460	602765
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT9 CL E G H	3857	2199	Exencephaly			ORPHA	1	137	6447	607606
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	LOR CL E G H	4014	316	Sacral agenesis			ORPHA	1		6663	152445
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	398	6840	176872
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	599	6842	601263
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MBTPS2 CL E G H	51360	659	Amyoplasia			ORPHA	1	248	15455	300294
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MBTPS2 CL E G H	51360	308800	Keratosis pilaris decalvans	308800	C0343057	OMIM	1	248	15455	300294
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MBTPS2 CL E G H	51360	300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	300918	C3806745	OMIM	1	248	15455	300294
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MT-TS1 CL E G H	4574	2202	Exostoses anetodermia brachydactyly type E			ORPHA	1		7497	590080
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	NIPAL4 CL E G H	348938	79394				ORPHA	1	161	28018	609383
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	NIPAL4 CL E G H	348938	612281	Autosomal recessive congenital ichthyosis 6	612281	C2677065	OMIM	1	161	28018	609383
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	NLRP1 CL E G H	22861	615225	Palmoplantar carcinoma, multiple self-healing	615225	C3808876	OMIM	1	495	14374	606636
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PEPD CL E G H	5184	742	Aortic dissection lentiginosis			ORPHA	1	362	8840	613230
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PIK3CA CL E G H	5290	201				ORPHA	1	975	8975	171834
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PKP1 CL E G H	5317	158668				ORPHA	1	238	9023	601975
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PNPLA1 CL E G H	285848	79394				ORPHA	1	148	21246	612121
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PNPLA1 CL E G H	285848	615024	Autosomal recessive congenital ichthyosis 10	615024	C3554355	OMIM	1	148	21246	612121
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	POMP CL E G H	51371	281201				ORPHA	1	95	20330	613386
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PTEN CL E G H	5728	201				ORPHA	1	2750	9588	601728
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	RECQL4 CL E G H	9401	221016				ORPHA	1	3666	9949	603780
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	RHBDF2 CL E G H	79651	2198				ORPHA	1	176	20788	614404
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	RSPO1 CL E G H	284654	85112				ORPHA	1	38	21679	609595
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	RSPO1 CL E G H	284654	610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal	610644	C3149931	OMIM	1	38	21679	609595
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SDHB CL E G H	6390	201				ORPHA	1	1099	10681	185470
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SDHC CL E G H	6391	201				ORPHA	1	702	10682	602413
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SDHD CL E G H	6392	201				ORPHA	1	607	10683	602690
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SEC23B CL E G H	10483	201				ORPHA	1	259	10702	610512
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SERPINB7 CL E G H	8710	140966				ORPHA	1	123	13902	603357
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SMARCAD1 CL E G H	56916	384				ORPHA	1	58	18398	612761
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SNAP29 CL E G H	9342	609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	609528	C1836033	OMIM	1	599	11133	604202
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TAT CL E G H	6898	28378				ORPHA	1	304	11573	613018
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TGM1 CL E G H	7051	79394				ORPHA	1	620	11777	190195
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TNFRSF1B CL E G H	7133	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	57	11917	191191
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TP63 CL E G H	8626	1071				ORPHA	1	508	15979	603273
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	508	15979	603273
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TRAPPC11 CL E G H	60684	869				ORPHA	1	774	25751	614138
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TRPV3 CL E G H	162514	659	Amyoplasia			ORPHA	1	342	18084	607066
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TRPV3 CL E G H	162514	614594	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques	614594	C2609071	OMIM	1	342	18084	607066
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TRPV3 CL E G H	162514	616400	Palmoplantar keratoderma, nonepidermolytic, focal 2	616400	C4225339	OMIM	1	342	18084	607066
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	WNT10A CL E G H	80326	50944				ORPHA	1	359	13829	606268
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	WNT10A CL E G H	80326	224750	Schopf-Schulz-Passarge syndrome	224750	C1857069	OMIM	1	359	13829	606268
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1266	60	601439
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	0	607	143	102540
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1157	164	102573
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ALOXE3 CL E G H	59344	606545	Autosomal recessive congenital ichthyosis 3	606545	C1847849	OMIM	0	218	13743	607206
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	0	389	15819	609599
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	0	856	939	603883
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	COL17A1 CL E G H	1308	79402				ORPHA	0	419	2194	113811
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	0	230	2389	123590
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	0	364	2472	600824
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	1044	26169	613129
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	CYP4F22 CL E G H	126410	604777	Autosomal recessive congenital ichthyosis 5	604777	C1858142	OMIM	0	199	26820	611495
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	0	818	2770	125660
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	477	2890	300126
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	0	7370	2928	300377
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	0	424	23406	610746
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1379	3049	125671
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	0	169	3703	602633
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	0	783	3622	607440
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	0	498	29941	614518
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	0	221	4274	121014
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	196	5154	601688
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	ITGB4 CL E G H	3691	79402				ORPHA	0	439	6158	147557
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT1 CL E G H	3848	312				ORPHA	0	155	6412	139350
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT10 CL E G H	3858	312				ORPHA	0	127	6413	148080
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT14 CL E G H	3861	79400				ORPHA	0	167	6416	148066
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	KRT5 CL E G H	3852	79400				ORPHA	0	258	6442	148040
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	LAMA3 CL E G H	3909	79402				ORPHA	0	1019	6483	600805
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1354	6484	600133
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	LAMB3 CL E G H	3914	79402				ORPHA	0	819	6490	150310
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	LAMC2 CL E G H	3918	79402				ORPHA	0	723	6493	150292
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1060	15710	605906
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	LEMD3 CL E G H	23592	1306	Choreoacanthocytosis amyotrophic			ORPHA	0	299	28887	607844
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MCOLN1 CL E G H	57192	578	Akesson syndrome			ORPHA	0	538	13356	605248
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2981	7551	600958
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1776	7576	160710
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3612	7577	160760
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1263	23246	608517
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	0	821	16932	605491
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	564	29557	613121
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	153	14377	606470
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	89	14378	606471
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	443	8609	604212
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	0	162	9080	172405
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	0	125	25686	609853
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1081	14000	605557
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	0	452	9508	104311
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	0	237	9509	600759
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	0	827	9829	164760
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1354	27424	613171
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	2005	15888	608833
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3171	10593	600163
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2186	10680	600857
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	0	587	10807	601411
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	178	10955	601460
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	0	35	11532	604903
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	0		11577	300394
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	0	254	11610	604488
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	293	11727	602322
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	2449	11730	187270
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	330	11824	604319
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	0	493	11875	188380
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	0	251	11943	191040
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	0	594	11947	191044
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	0	734	11949	191045
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	0	694	12010	191010
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	0	22859	12403	188840
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	0	958	18155	606448
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	215	25792	613276
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	0	978	12665	193065
HP:0000982	HP:0000982	Palmoplantar keratoderma	0	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	372	25522	612661