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:0002381	HP:0002381	Aphasia	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	3
HP:0002381	HP:0002381	Aphasia	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0002381	HP:0002381	Aphasia	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0002381	HP:0002381	Aphasia	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040283 - Occasional	22
HP:0002381	HP:0002381	Aphasia	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002381	HP:0002381	Aphasia	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0002381	HP:0002381	Aphasia	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0002381	HP:0002381	Aphasia	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0002381	HP:0002381	Aphasia	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	74
HP:0002381	HP:0002381	Aphasia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0002381	HP:0002381	Aphasia	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0002381	HP:0002381	Aphasia	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0002381	HP:0002381	Aphasia	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0002381	HP:0002381	Aphasia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0002381	HP:0002381	Aphasia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	56
HP:0002381	HP:0002381	Aphasia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	56
HP:0002381	HP:0002381	Aphasia	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0002381	HP:0002381	Aphasia	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0002381	HP:0002381	Aphasia	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0002381	HP:0002381	Aphasia	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0002381	HP:0002381	Aphasia	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0002381	HP:0002381	Aphasia	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0002381	HP:0002381	Aphasia	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	42
HP:0002381	HP:0002381	Aphasia	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	42
HP:0002381	HP:0002381	Aphasia	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent	7
HP:0002381	HP:0002381	Aphasia	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0002381	HP:0002381	Aphasia	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0002381	HP:0002381	Aphasia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0002381	HP:0002381	Aphasia	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0002381	HP:0002381	Aphasia	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0002381	HP:0002381	Aphasia	0	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040282 - Frequent	172
HP:0002381	HP:0002381	Aphasia	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci		172
HP:0002381	HP:0002381	Aphasia	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect		94
HP:0002381	HP:0002381	Aphasia	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0002381	HP:0002381	Aphasia	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0002381	HP:0002381	Aphasia	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0002381	HP:0002381	Aphasia	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0002381	HP:0002381	Aphasia	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0002381	HP:0002381	Aphasia	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0002381	HP:0002381	Aphasia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0002381	HP:0002381	Aphasia	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0002381	HP:0002381	Aphasia	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0002381	HP:0002381	Aphasia	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent	434
HP:0002381	HP:0002381	Aphasia	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0002381	HP:0002381	Aphasia	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002381	HP:0002381	Aphasia	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	126
HP:0002381	HP:0002381	Aphasia	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	126
HP:0002381	HP:0002381	Aphasia	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0002381	HP:0002381	Aphasia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0002381	HP:0002381	Aphasia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0002381	HP:0002381	Aphasia	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0002381	HP:0002381	Aphasia	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0002381	HP:0002381	Aphasia	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002381	HP:0002381	Aphasia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0002381	HP:0002381	Aphasia	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0002381	HP:0002381	Aphasia	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0002381	HP:0002381	Aphasia	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0002381	HP:0002381	Aphasia	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent	134
HP:0002381	HP:0002381	Aphasia	0	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria		34
HP:0002381	HP:0002381	Aphasia	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0002381	HP:0002381	Aphasia	0	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040282 - Frequent	75
HP:0002381	HP:0002381	Aphasia	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia		140
HP:0002381	HP:0002381	Aphasia	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	140
HP:0002381	HP:0002381	Aphasia	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent	140
HP:0002381	HP:0002381	Aphasia	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040283 - Occasional	140
HP:0002381	HP:0002381	Aphasia	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	140
HP:0002381	HP:0002381	Aphasia	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0002381	HP:0002381	Aphasia	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare	220
HP:0002381	HP:0002381	Aphasia	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040284 - Very rare	144
HP:0002381	HP:0002381	Aphasia	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0002381	HP:0002381	Aphasia	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci		4
HP:0002381	HP:0002381	Aphasia	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci		7
HP:0002381	HP:0002381	Aphasia	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome		34
HP:0002381	HP:0002381	Aphasia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0002381	HP:0002381	Aphasia	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent	759
HP:0002381	HP:0002381	Aphasia	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0002381	HP:0002381	Aphasia	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0002381	HP:0002381	Aphasia	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0002381	HP:0002381	Aphasia	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0002381	HP:0002381	Aphasia	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0002381	HP:0002381	Aphasia	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0002381	HP:0002381	Aphasia	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia		241
HP:0002381	HP:0002381	Aphasia	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	241
HP:0002381	HP:0002381	Aphasia	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	241
HP:0002381	HP:0002381	Aphasia	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	241
HP:0002381	HP:0002381	Aphasia	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	59
HP:0002381	HP:0002381	Aphasia	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0002381	HP:0002381	Aphasia	0	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040282 - Frequent	334
HP:0002381	HP:0002381	Aphasia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002381	HP:0002381	Aphasia	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0002381	HP:0002381	Aphasia	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0002381	HP:0002381	Aphasia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002381	HP:0002381	Aphasia	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0002381	HP:0002381	Aphasia	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0002381	HP:0002381	Aphasia	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0002381	HP:0002381	Aphasia	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	3
HP:0002381	HP:0002381	Aphasia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia		62
HP:0002381	HP:0002381	Aphasia	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis		19
HP:0002381	HP:0002381	Aphasia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0002381	HP:0002381	Aphasia	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0002381	HP:0002381	Aphasia	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0002381	HP:0002381	Aphasia	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0002381	HP:0002381	Aphasia	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0002381	HP:0002381	Aphasia	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0002381	HP:0002381	Aphasia	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia		31
HP:0002381	HP:0002381	Aphasia	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	31
HP:0002381	HP:0002381	Aphasia	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002381	HP:0002381	Aphasia	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	31
HP:0002381	HP:0002381	Aphasia	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	31
HP:0002381	HP:0002381	Aphasia	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0002381	HP:0002381	Aphasia	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0002381	HP:0002381	Aphasia	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder		1
HP:0002381	HP:0002381	Aphasia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002381	HP:0002381	Aphasia	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia		63
HP:0002381	HP:0002381	Aphasia	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0002381	HP:0002381	Aphasia	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0002381	HP:0002381	Aphasia	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	63
HP:0002381	HP:0033849	Bilingual aphasia	1	CL E G H
HP:0002381	HP:0033848	Receptive aphasia	1	CL E G H
HP:0002381	HP:0002427	Expressive aphasia	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	56
HP:0002381	HP:0030784	Anomic aphasia	1	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	56
HP:0002381	HP:0002427	Expressive aphasia	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	42
HP:0002381	HP:0030784	Anomic aphasia	1	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	42
HP:0002381	HP:0002427	Expressive aphasia	1	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	172
HP:0002381	HP:0002427	Expressive aphasia	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0002381	HP:0002427	Expressive aphasia	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0002381	HP:0002427	Expressive aphasia	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	126
HP:0002381	HP:0030784	Anomic aphasia	1	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	126
HP:0002381	HP:0002427	Expressive aphasia	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	140
HP:0002381	HP:0030784	Anomic aphasia	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent	140
HP:0002381	HP:0030784	Anomic aphasia	1	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	140
HP:0002381	HP:0002427	Expressive aphasia	1	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	4
HP:0002381	HP:0002427	Expressive aphasia	1	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	7
HP:0002381	HP:0030784	Anomic aphasia	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0002381	HP:0002427	Expressive aphasia	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	241
HP:0002381	HP:0030784	Anomic aphasia	1	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	241
HP:0002381	HP:0002427	Expressive aphasia	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0002381	HP:0030784	Anomic aphasia	1	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent
HP:0002381	HP:0002427	Expressive aphasia	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	31
HP:0002381	HP:0030784	Anomic aphasia	1	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	31
HP:0002381	HP:0002427	Expressive aphasia	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	63