IHH (Indian hedgehog signaling molecule)

Gene

• Entrez ID: 3549
• Gene name: Indian hedgehog signaling molecule
• Gene symbol: IHH
• Synonyms (NCBI Gene): BDA1, HHG2
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essen

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917853	C>T	Pathogenic	Coding sequence variant, missense variant
rs121917857	A>G	Pathogenic	Coding sequence variant, missense variant
rs121917861	G>A	Pathogenic	Coding sequence variant, missense variant
rs143959492	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267606872	G>T	Pathogenic	Coding sequence variant, missense variant
rs267606873	C>T	Pathogenic	Coding sequence variant, missense variant
rs1454141074	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT447255	hsa-miR-4433b-3p	PAR-CLIP	22100165
MIRT447254	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT447253	hsa-miR-326	PAR-CLIP	22100165
MIRT447252	hsa-miR-330-5p	PAR-CLIP	22100165
MIRT447251	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT447250	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT447249	hsa-miR-378j	PAR-CLIP	22100165
MIRT447248	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT447247	hsa-miR-3150b-3p	PAR-CLIP	22100165
MIRT447245	hsa-miR-4784	PAR-CLIP	22100165
MIRT447246	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447244	hsa-miR-593-3p	PAR-CLIP	22100165
MIRT447243	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT447242	hsa-miR-4711-3p	PAR-CLIP	22100165
MIRT447241	hsa-miR-3191-5p	PAR-CLIP	22100165
MIRT447240	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT447239	hsa-miR-5706	PAR-CLIP	22100165
MIRT447238	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447237	hsa-miR-3915	PAR-CLIP	22100165
MIRT447236	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT447235	hsa-miR-4689	PAR-CLIP	22100165
MIRT447233	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT447255	hsa-miR-4433b-3p	PAR-CLIP	22100165
MIRT447254	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT447253	hsa-miR-326	PAR-CLIP	22100165
MIRT447252	hsa-miR-330-5p	PAR-CLIP	22100165
MIRT447251	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT447250	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT447249	hsa-miR-378j	PAR-CLIP	22100165
MIRT447248	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT447247	hsa-miR-3150b-3p	PAR-CLIP	22100165
MIRT447245	hsa-miR-4784	PAR-CLIP	22100165
MIRT447246	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447244	hsa-miR-593-3p	PAR-CLIP	22100165
MIRT447243	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT447242	hsa-miR-4711-3p	PAR-CLIP	22100165
MIRT447241	hsa-miR-3191-5p	PAR-CLIP	22100165
MIRT447240	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT447239	hsa-miR-5706	PAR-CLIP	22100165
MIRT447238	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447237	hsa-miR-3915	PAR-CLIP	22100165
MIRT447236	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT447235	hsa-miR-4689	PAR-CLIP	22100165
MIRT447233	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT447255	hsa-miR-4433b-3p	PAR-CLIP	22100165
MIRT447254	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT447253	hsa-miR-326	PAR-CLIP	22100165
MIRT447252	hsa-miR-330-5p	PAR-CLIP	22100165
MIRT447251	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT447250	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT447249	hsa-miR-378j	PAR-CLIP	22100165
MIRT447248	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT447247	hsa-miR-3150b-3p	PAR-CLIP	22100165
MIRT447245	hsa-miR-4784	PAR-CLIP	22100165
MIRT447246	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447244	hsa-miR-593-3p	PAR-CLIP	22100165
MIRT447243	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT447242	hsa-miR-4711-3p	PAR-CLIP	22100165
MIRT447241	hsa-miR-3191-5p	PAR-CLIP	22100165
MIRT447240	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT447239	hsa-miR-5706	PAR-CLIP	22100165
MIRT447238	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447237	hsa-miR-3915	PAR-CLIP	22100165
MIRT447236	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT447235	hsa-miR-4689	PAR-CLIP	22100165
MIRT447233	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT447255	hsa-miR-4433b-3p	PAR-CLIP	22100165
MIRT447254	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT447253	hsa-miR-326	PAR-CLIP	22100165
MIRT447252	hsa-miR-330-5p	PAR-CLIP	22100165
MIRT447251	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT447250	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT447249	hsa-miR-378j	PAR-CLIP	22100165
MIRT447248	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT447247	hsa-miR-3150b-3p	PAR-CLIP	22100165
MIRT447245	hsa-miR-4784	PAR-CLIP	22100165
MIRT447246	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447244	hsa-miR-593-3p	PAR-CLIP	22100165
MIRT447243	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT447242	hsa-miR-4711-3p	PAR-CLIP	22100165
MIRT447241	hsa-miR-3191-5p	PAR-CLIP	22100165
MIRT447240	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT447239	hsa-miR-5706	PAR-CLIP	22100165
MIRT447238	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447237	hsa-miR-3915	PAR-CLIP	22100165
MIRT447236	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT447235	hsa-miR-4689	PAR-CLIP	22100165
MIRT447233	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT1062907	hsa-miR-1202	CLIP-seq
MIRT1062908	hsa-miR-214	CLIP-seq
MIRT1062909	hsa-miR-2681	CLIP-seq
MIRT1062910	hsa-miR-298	CLIP-seq
MIRT1062911	hsa-miR-3154	CLIP-seq
MIRT1062912	hsa-miR-3179	CLIP-seq
MIRT1062913	hsa-miR-3194-5p	CLIP-seq
MIRT1062914	hsa-miR-3619-5p	CLIP-seq
MIRT1062915	hsa-miR-3972	CLIP-seq
MIRT1062916	hsa-miR-4291	CLIP-seq
MIRT1062917	hsa-miR-4300	CLIP-seq
MIRT1062918	hsa-miR-4716-3p	CLIP-seq
MIRT1062919	hsa-miR-4723-5p	CLIP-seq
MIRT1062920	hsa-miR-4761-5p	CLIP-seq
MIRT1062921	hsa-miR-761	CLIP-seq
MIRT1062922	hsa-miR-920	CLIP-seq
MIRT1062923	hsa-miR-922	CLIP-seq
MIRT1062924	hsa-miR-939	CLIP-seq
MIRT1922147	hsa-miR-663b	CLIP-seq
MIRT2014819	hsa-miR-1207-5p	CLIP-seq
MIRT2014820	hsa-miR-1273f	CLIP-seq
MIRT2014821	hsa-miR-4736	CLIP-seq
MIRT2014822	hsa-miR-4763-3p	CLIP-seq
MIRT2247162	hsa-miR-1275	CLIP-seq
MIRT2247163	hsa-miR-1827	CLIP-seq
MIRT2247164	hsa-miR-3612	CLIP-seq
MIRT2247165	hsa-miR-4525	CLIP-seq
MIRT2247166	hsa-miR-4665-5p	CLIP-seq
MIRT1062919	hsa-miR-4723-5p	CLIP-seq
MIRT2247167	hsa-miR-625	CLIP-seq
MIRT2247168	hsa-miR-650	CLIP-seq
MIRT2389320	hsa-miR-4651	CLIP-seq
MIRT2389321	hsa-miR-608	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
RUNX2	Unknown	21328448

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	IMP	21537345
GO:0001503	Process	Ossification	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001708	Process	Cell fate specification	IBA
GO:0001708	Process	Cell fate specification	IEA
GO:0001763	Process	Morphogenesis of a branching structure	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003382	Process	Epithelial cell morphogenesis	IEA
GO:0003406	Process	Retinal pigment epithelium development	IEA
GO:0003413	Process	Chondrocyte differentiation involved in endochondral bone morphogenesis	IEA
GO:0005113	Function	Patched binding	IBA
GO:0005113	Function	Patched binding	IDA	11472839
GO:0005113	Function	Patched binding	IEA
GO:0005113	Function	Patched binding	IPI	21537345
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	21537345
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	20519495
GO:0005576	Component	Extracellular region	IDA	24342078
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	21537345
GO:0005886	Component	Plasma membrane	IEA
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IDA	21537345
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	ISS
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0016020	Component	Membrane	IEA
GO:0016539	Process	Intein-mediated protein splicing	IEA
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030704	Process	Vitelline membrane formation	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IEA
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	IEA
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	ISS
GO:0033088	Process	Negative regulation of immature T cell proliferation in thymus	IEA
GO:0033088	Process	Negative regulation of immature T cell proliferation in thymus	ISS
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	ISS
GO:0034189	Function	Very-low-density lipoprotein particle binding	IDA	20839884
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035988	Process	Chondrocyte proliferation	IEA
GO:0040008	Process	Regulation of growth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	17889828
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045453	Process	Bone resorption	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IDA	24342078
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	ISS
GO:0046639	Process	Negative regulation of alpha-beta T cell differentiation	IEA
GO:0046639	Process	Negative regulation of alpha-beta T cell differentiation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048074	Process	Negative regulation of eye pigmentation	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0048666	Process	Neuron development	IEA
GO:0048731	Process	System development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	IMP	17889828
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0060220	Process	Camera-type eye photoreceptor cell fate commitment	IEA
GO:0060323	Process	Head morphogenesis	IEA
GO:0061053	Process	Somite development	IEA
GO:0061053	Process	Somite development	ISS
GO:0072498	Process	Embryonic skeletal joint development	IEA
GO:0090136	Process	Epithelial cell-cell adhesion	IEA
GO:0097264	Process	Self proteolysis	ISS
GO:0097421	Process	Liver regeneration	IEA
GO:0140853	Function	Cholesterol-protein transferase activity	ISS

Other IDs

• MIM: 600726
• HGNC: 5956
• e!Ensembl: ENSG00000163501

Protein

• UniProt ID: Q14623
• Protein name: Indian hedgehog protein (IHH) (EC 3.1.-.-) (HHG-2) [Cleaved into: Indian hedgehog protein N-product]
• Protein function: Plays a role in embryonic morphogenesis; it is involved in the regulation of endochondral skeleton formation, and the development of retinal pigment epithelium (RPE), photoreceptors and periocular tissues (By similarity). {ECO:0000250|UniProtKB:
• PDB: 3K7G, 3K7H, 3K7I, 3K7J, 3N1F, 3N1M, 3N1O, 3N1P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01085	HH_signal	28 → 189	Hedgehog amino-terminal signalling domain	Domain
  PF01079	Hint	192 → 397	Hint module	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in embryonic lung, and in adult kidney and liver.
• Sequence:

  MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKT
  LGASGRYEGKIARSSERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMN
  QWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRNKYGLLARLAVEAGFDWVYY
  ESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRPGDRVLAMGEDGSPTF
  SDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQP
  GQYVLVAGVPGLQPARVAAVSTHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLA
  FWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGSFHPLGMSGAGS

• Sequence length: 411

Pathways

KEGG:

Hedgehog signaling pathway
Proteoglycans in cancer

Reactome:

Hedgehog ligand biogenesis
Release of Hh-Np from the secreting cell
Ligand-receptor interactions
Activation of SMO
HHAT G278V abrogates palmitoylation of Hh-Np

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acrocapitofemoral dysplasia	Pathogenic; Likely pathogenic	rs1948842030, rs121917856, rs121917857, rs2469520105, rs1454141074	RCV001582341 RCV000009420 RCV000009421 RCV005235708 RCV000985118	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type A1	Pathogenic; Likely pathogenic	rs1948842030, rs2106310580, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs1553540620, rs1948841937, rs1948868228, rs1948842142, rs1948841364	RCV004762165 RCV004720379 RCV000009416 RCV000009417 RCV000009418 RCV000009419 RCV000009422 RCV000009423 RCV000009425 RCV000009426 RCV005245495 RCV001257075 RCV001257076 RCV001257077 RCV001257079 RCV001257091	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type A1A	Pathogenic; Likely pathogenic	rs2469514359, rs121917855, rs2469520105	RCV002468719 RCV001804721 RCV003335836	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirschsprung disease, susceptibility to, 1	Likely pathogenic	rs1553540620	RCV000508633	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IHH-related disorder	Pathogenic	rs1948871509	RCV003911075	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Brachydactyly	Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BRACHYDACTYLY, TYPE A1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IHH-Related Disorders	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrocallosal Syndrome	Acrocallosal syndrome	Pubtator	22234151	Associate	★☆☆☆☆ Found in Text Mining only
Acrocapitofemoral Dysplasia	Acrocapitofemoral Dysplasia	ORPHANET_DG	12632327		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocapitofemoral Dysplasia	Acrocapitofemoral Dysplasia	UNIPROT_DG	12632327		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocapitofemoral Dysplasia	Acrocapitofemoral Dysplasia	GENOMICS_ENGLAND_DG	12632327, 21167467, 25959774		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocapitofemoral dysplasia	Acrocapitofemoral Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocapitofemoral Dysplasia	Acrocapitofemoral Dysplasia	BEFREE	19277064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocapitofemoral Dysplasia	Acrocapitofemoral dysplasia	Pubtator	19277064	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocapitofemoral Dysplasia	Acrocapitofemoral Dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acrocapitofemoral Dysplasia	Acrocapitofemoral Dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acropectorovertebral Dysplasia, F-Form	Acropectorovertebral dysplasia	GENOMICS_ENGLAND_DG	25959774		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27801732		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25307863		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	20854074		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	25307863		★☆☆☆☆ Found in Text Mining only
Anophthalmos with limb anomalies	Anophthalmia	Pubtator	30374058	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	19793350		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	LHGDN	18829534		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	21537345	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	22766796	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	15225411, 19277064, 20683927		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachydactyly	Brachydactyly	Pubtator	19277064	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachydactyly	Brachydactyly	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachydactyly type A1	Brachydactyly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type A1	Brachydactyly	Pubtator	21537345, 22234151, 30651074, 34315464	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	BEFREE	11455389, 12384778, 19464397, 21537345, 29155992, 30651074		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	ORPHANET_DG	11455389		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	UNIPROT_DG	11455389, 12384778, 21537345		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	GENOMICS_ENGLAND_DG	12632327, 21167467, 25959774		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18636275	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18405344, 24384722	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	18636275	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28205343	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	27428952, 35406794	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	22469853, 35313742	Associate	★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	16476576		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	Pubtator	40221697	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	17387386		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	17387386, 24384722	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Mesenchymal	Chondrosarcoma	Pubtator	17387386	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	20477965		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19856079, 25857463		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20854074, 28064102		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	30374058	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	27966732		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	22234151	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	22234151	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29311969		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27428952		★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	29280744		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	20683927, 29155992		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30306731	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21063030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	21640343	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ewings sarcoma	Ewing sarcoma	BEFREE	24846856		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	31087761	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	32256960	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27966732	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	14651602		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	22469853	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	14651602, 25636053, 30467832, 30651074		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	17959774, 22801565		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25742740		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17971457	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18636275, 28205343	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16258256		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19856079, 25857463		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31820036	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	37805627	Associate	★☆☆☆☆ Found in Text Mining only
Mesenchymal Chondrosarcoma	Mesenchymal Chondrosarcoma	LHGDN	17387386		★☆☆☆☆ Found in Text Mining only
Metachondromatosis	Metachondromatosis	BEFREE	16622899		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	31745065	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27801732, 28064102		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	28874334		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22469853	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23671648, 27428952, 35313742	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15146555		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26611646, 30720110		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34873972	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	22234151, 30374058	Associate	★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	22801565		★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	18787502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	40084286	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES	Short Stature With Nonspecific Skeletal Abnormalities	BEFREE	29155992		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27801732		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26768620	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	27801732		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16258256		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25173755, 33811245	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	22234151, 27966732	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly, Type I	Syndactyly	GENOMICS_ENGLAND_DG	21167467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22028038	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	27966732	Associate	★☆☆☆☆ Found in Text Mining only