Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the endocrine system (HP:0000818)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Abnormal thyroid morphology (HP:0011772)

Parent Node:
Neoplasm of the endocrine system (HP:0100568)

..Starting node
..Neoplasm of the thyroid gland (HP:0100031)

Term ID:

100031

Name:

Neoplasm of the thyroid gland

Synonym:

Neoplasia of the thyroid gland

Definition:

A tumor (abnormal growth of tissue) of the thyroid gland.

Comments:

Reference:

HP:0100031

Genes and Diseases:

Child Nodes:

........

Thyroid adenoma (HP:0000854)

................... HP:0006781 Hurthle cell thyroid adenoma
................... HP:0011774 Thyroid follicular adenoma
................... HP:0011777 Thyroid papillary adenoma
................... HP:0011778 Thyroid atypical adenoma

........

Thyroid carcinoma (HP:0002890)

................... HP:0002865 Medullary thyroid carcinoma
................... HP:0002895 Papillary thyroid carcinoma
................... HP:0006731 Follicular thyroid carcinoma
................... HP:0011779 Anaplastic thyroid carcinoma
................... HP:0040198 Non-medullary thyroid carcinoma

Sister Nodes:

APUdoma (HP:0040192)

Neoplasm of the adrenal gland (HP:0100631)

Neoplasm of the parathyroid gland (HP:0100733)

Neoplasm of the pituitary gland (HP:0040277)

Neuroendocrine neoplasm (HP:0100634)

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:0100031	HP:0100031	Neoplasm of the thyroid gland	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	135
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	192
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1		670
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	13
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	67
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	55
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	77
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	12
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome		332
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		9
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome		33
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome		33
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	59
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		58
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	HABP2 CL E G H	3026	4798	OMIM:616535	Thyroid cancer, nonmedullary, 5		58
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2		113
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome		121
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome		121
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040282 - Frequent	645
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		3
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1		51
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2		102
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	4
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent	948
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040283 - Occasional	948
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	572
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	RET CL E G H	5979	9967	OMIM:155240	Thyroid carcinoma, familial medullary		572
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	1
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	2
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome		274
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome		274
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	22
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	1
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3		155
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0100031	HP:0100031	Neoplasm of the thyroid gland	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0100031	HP:0002890	Thyroid carcinoma	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0100031	HP:0000854	Thyroid adenoma	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0100031	HP:0002890	Thyroid carcinoma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100031	HP:0002890	Thyroid carcinoma	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100031	HP:0002890	Thyroid carcinoma	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100031	HP:0002890	Thyroid carcinoma	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0100031	HP:0002890	Thyroid carcinoma	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0100031	HP:0002890	Thyroid carcinoma	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0100031	HP:0002890	Thyroid carcinoma	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0100031	HP:0002890	Thyroid carcinoma	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	385
HP:0100031	HP:0000854	Thyroid adenoma	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0100031	HP:0002890	Thyroid carcinoma	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0100031	HP:0000854	Thyroid adenoma	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0100031	HP:0002890	Thyroid carcinoma	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040284 - Very rare	169
HP:0100031	HP:0002890	Thyroid carcinoma	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040284 - Very rare	169
HP:0100031	HP:0002890	Thyroid carcinoma	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0100031	HP:0002890	Thyroid carcinoma	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0100031	HP:0000854	Thyroid adenoma	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0100031	HP:0002890	Thyroid carcinoma	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100031	HP:0002890	Thyroid carcinoma	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0100031	HP:0002890	Thyroid carcinoma	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0100031	HP:0002890	Thyroid carcinoma	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100031	HP:0002890	Thyroid carcinoma	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare	670
HP:0100031	HP:0002890	Thyroid carcinoma	1	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1		670
HP:0100031	HP:0002890	Thyroid carcinoma	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0100031	HP:0000854	Thyroid adenoma	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0100031	HP:0002890	Thyroid carcinoma	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0100031	HP:0002890	Thyroid carcinoma	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0100031	HP:0000854	Thyroid adenoma	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0100031	HP:0002890	Thyroid carcinoma	1	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome		332
HP:0100031	HP:0002890	Thyroid carcinoma	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		9
HP:0100031	HP:0002890	Thyroid carcinoma	1	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0100031	HP:0002890	Thyroid carcinoma	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	33
HP:0100031	HP:0002890	Thyroid carcinoma	1	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.	33
HP:0100031	HP:0002890	Thyroid carcinoma	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	9
HP:0100031	HP:0002890	Thyroid carcinoma	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		58
HP:0100031	HP:0002890	Thyroid carcinoma	1	HABP2 CL E G H	3026	4798	OMIM:616535	Thyroid cancer, nonmedullary, 5		58
HP:0100031	HP:0002890	Thyroid carcinoma	1	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2		113
HP:0100031	HP:0002890	Thyroid carcinoma	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0100031	HP:0002890	Thyroid carcinoma	1	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.	121
HP:0100031	HP:0002890	Thyroid carcinoma	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	121
HP:0100031	HP:0002890	Thyroid carcinoma	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare
HP:0100031	HP:0002890	Thyroid carcinoma	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0100031	HP:0002890	Thyroid carcinoma	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100031	HP:0000854	Thyroid adenoma	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0100031	HP:0002890	Thyroid carcinoma	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0100031	HP:0002890	Thyroid carcinoma	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		3
HP:0100031	HP:0002890	Thyroid carcinoma	1	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100031	HP:0000854	Thyroid adenoma	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4	.	5
HP:0100031	HP:0000854	Thyroid adenoma	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0100031	HP:0002890	Thyroid carcinoma	1	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1		51
HP:0100031	HP:0002890	Thyroid carcinoma	1	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2		102
HP:0100031	HP:0002890	Thyroid carcinoma	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040283 - Occasional	13
HP:0100031	HP:0002890	Thyroid carcinoma	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0100031	HP:0000854	Thyroid adenoma	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0100031	HP:0002890	Thyroid carcinoma	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040283 - Occasional	134
HP:0100031	HP:0002890	Thyroid carcinoma	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.	134
HP:0100031	HP:0002890	Thyroid carcinoma	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0100031	HP:0000854	Thyroid adenoma	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0100031	HP:0002890	Thyroid carcinoma	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0100031	HP:0002890	Thyroid carcinoma	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0100031	HP:0000854	Thyroid adenoma	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0100031	HP:0002890	Thyroid carcinoma	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0100031	HP:0000854	Thyroid adenoma	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0100031	HP:0002890	Thyroid carcinoma	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0100031	HP:0002890	Thyroid carcinoma	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0100031	HP:0002890	Thyroid carcinoma	1	RET CL E G H	5979	9967	OMIM:155240	Thyroid carcinoma, familial medullary		572
HP:0100031	HP:0002890	Thyroid carcinoma	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0100031	HP:0002890	Thyroid carcinoma	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0100031	HP:0002890	Thyroid carcinoma	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0100031	HP:0002890	Thyroid carcinoma	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0100031	HP:0002890	Thyroid carcinoma	1	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0100031	HP:0002890	Thyroid carcinoma	1	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.	274
HP:0100031	HP:0002890	Thyroid carcinoma	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	274
HP:0100031	HP:0002890	Thyroid carcinoma	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0100031	HP:0002890	Thyroid carcinoma	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0100031	HP:0002890	Thyroid carcinoma	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0100031	HP:0002890	Thyroid carcinoma	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0100031	HP:0002890	Thyroid carcinoma	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0100031	HP:0002890	Thyroid carcinoma	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0100031	HP:0002890	Thyroid carcinoma	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0100031	HP:0002890	Thyroid carcinoma	1	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100031	HP:0002890	Thyroid carcinoma	1	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3	.	155
HP:0100031	HP:0002890	Thyroid carcinoma	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0100031	HP:0002890	Thyroid carcinoma	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0100031	HP:0002890	Thyroid carcinoma	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0100031	HP:0011774	Thyroid follicular adenoma	2	CL E G H
HP:0100031	HP:0011779	Anaplastic thyroid carcinoma	2	CL E G H
HP:0100031	HP:0011778	Thyroid atypical adenoma	2	CL E G H
HP:0100031	HP:0011777	Thyroid papillary adenoma	2	CL E G H
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional	3179
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	88
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	219
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	25
HP:0100031	HP:0006781	Hurthle cell thyroid adenoma	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1	.	670
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0100031	HP:0002865	Medullary thyroid carcinoma	2	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040283 - Occasional	332
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	9
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	9
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	58
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	58
HP:0100031	HP:0040198	Non-medullary thyroid carcinoma	2	HABP2 CL E G H	3026	4798	OMIM:616535	Thyroid cancer, nonmedullary, 5	.	58
HP:0100031	HP:0040198	Non-medullary thyroid carcinoma	2	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	113
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	113
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2		113
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	3
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	3
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	3
HP:0100031	HP:0040198	Non-medullary thyroid carcinoma	2	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	3
HP:0100031	HP:0040198	Non-medullary thyroid carcinoma	2	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1	.	51
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1	.	51
HP:0100031	HP:0040198	Non-medullary thyroid carcinoma	2	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	102
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	102
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2		102
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0100031	HP:0002865	Medullary thyroid carcinoma	2	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0100031	HP:0002865	Medullary thyroid carcinoma	2	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0100031	HP:0002865	Medullary thyroid carcinoma	2	RET CL E G H	5979	9967	OMIM:155240	Thyroid carcinoma, familial medullary	.	572
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	617
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	87
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	1
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	47
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	14
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0100031	HP:0040198	Non-medullary thyroid carcinoma	2	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	3
HP:0100031	HP:0002895	Papillary thyroid carcinoma	2	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	3
HP:0100031	HP:0006731	Follicular thyroid carcinoma	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0100031	HP:0011776	Thyroid microfollicular adenoma	3	CL E G H
HP:0100031	HP:0011775	Thyroid macrofollicular adenoma	3	CL E G H

Genes (84) :ABCD1 AKT1 APC ARID1A ARID1B ARID2 ATP7A BMPR1A CASP10 CDC73 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 DICER1 DPF2 ECE1 EDN3 EDNRB EPCAM ERBB2 ERBB3 FAN1 FAS FASLG FLCN FOXE1 FOXI1 GDNF GREM1 HABP2 HRAS JAG1 KCNJ10 KEAP1 KLLN KRAS LMNA MDM2 MEN1 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 NKX2-1 NRAS NRTN PDE11A PIK3CA PMS1 PMS2 PRKAR1A PRKCD PTEN RASGRP1 RET RPS20 SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SEMA4A SLC26A4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMO SOX11 SOX4 SREBF1 SRGAP1 TG TGFBR2 TP53 USF3 WRN

Diseases (46) :ORPHA:388 ORPHA:201 OMIM:615109 OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:99818 ORPHA:1465 ORPHA:440437 ORPHA:157794 ORPHA:3261 OMIM:145001 ORPHA:99880 ORPHA:143 ORPHA:652 ORPHA:276152 ORPHA:524 ORPHA:276399 OMIM:138800 ORPHA:144 ORPHA:122 ORPHA:319487 OMIM:616534 OMIM:274600 ORPHA:705 OMIM:616535 OMIM:188470 OMIM:118450 ORPHA:79474 OMIM:131100 OMIM:617100 ORPHA:480536 OMIM:188550 ORPHA:1359 OMIM:615108 OMIM:160980 ORPHA:109 OMIM:158350 ORPHA:65285 ORPHA:137608 OMIM:171400 OMIM:162300 OMIM:155240 OMIM:616858 OMIM:274700 ORPHA:902

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen