ANOS1 (anosmin 1)

Gene

• Entrez ID: 3730
• Gene name: Anosmin 1
• Gene symbol: ANOS1
• Synonyms (NCBI Gene): ADMLX, HH1, HHA, KAL, KAL1, KALIG-1, KMS, WFDC19
• Chromosome: X
• Chromosome location: Xp22.31
• Summary: Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852512	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852513	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852514	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852515	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137852516	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852517	G>A	Pathogenic	Coding sequence variant, missense variant
rs144586521	C>A,T	Pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs387906427	C>A	Pathogenic	Splice donor variant
rs397518425	A>-	Pathogenic	Splice donor variant, genic downstream transcript variant
rs606231409	T>A,C	Pathogenic	Missense variant, initiator codon variant
rs727505374	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs747010865	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs773138384	C>T	Likely-pathogenic	Intron variant
rs886039395	G>A,T	Pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant
rs932845258	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519418	T>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057520209	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520210	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1064796777	C>A	Pathogenic	Coding sequence variant, stop gained
rs1131691560	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691863	C>T	Pathogenic	Initiator codon variant, missense variant
rs1404298787	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1555893221	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1555904591	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555904596	->AGCAGCCGCGC	Pathogenic	Frameshift variant, coding sequence variant
rs1569059249	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1601946139	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1601965037	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601988004	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602050730	GC>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT740253	hsa-miR-3678-5p	HITS-CLIP	19536157
MIRT740254	hsa-miR-3183	HITS-CLIP	19536157
MIRT740255	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT740256	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT740257	hsa-miR-3605-3p	HITS-CLIP	19536157
MIRT740258	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT740259	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT740253	hsa-miR-3678-5p	HITS-CLIP	19536157
MIRT740254	hsa-miR-3183	HITS-CLIP	19536157
MIRT740255	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT740256	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT740257	hsa-miR-3605-3p	HITS-CLIP	19536157
MIRT740258	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT740259	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT740253	hsa-miR-3678-5p	HITS-CLIP	19536157
MIRT740254	hsa-miR-3183	HITS-CLIP	19536157
MIRT740255	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT740256	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT740257	hsa-miR-3605-3p	HITS-CLIP	19536157
MIRT740258	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT740259	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT741981	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT741982	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT741983	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT741984	hsa-miR-4801	HITS-CLIP	23824327
MIRT741985	hsa-miR-556-3p	HITS-CLIP	23824327
MIRT754476	hsa-miR-6771-3p	PAR-CLIP	22012620
MIRT754477	hsa-miR-3925-5p	PAR-CLIP	22012620
MIRT754478	hsa-miR-5003-5p	PAR-CLIP	22012620
MIRT754479	hsa-miR-3919	PAR-CLIP	22012620
MIRT754480	hsa-miR-146a-5p	PAR-CLIP	22012620
MIRT754481	hsa-miR-146b-5p	PAR-CLIP	22012620
MIRT754482	hsa-miR-7153-5p	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005201	Function	Extracellular matrix structural constituent	TAS	8842728
GO:0005515	Function	Protein binding	IPI	19696444, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	TAS	8842728
GO:0005886	Component	Plasma membrane	IEA
GO:0006935	Process	Chemotaxis	IEA
GO:0006935	Process	Chemotaxis	TAS	8842728
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	1913827, 1922361
GO:0007411	Process	Axon guidance	TAS	1922361
GO:0008201	Function	Heparin binding	IEA
GO:0009986	Component	Cell surface	IBA
GO:0016020	Component	Membrane	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	TAS	8832397

Other IDs

• MIM: 300836
• HGNC: 6211
• e!Ensembl: ENSG00000011201

Protein

• UniProt ID: P23352
• Protein name: Anosmin-1 (Adhesion molecule-like X-linked) (Kallmann syndrome protein)
• Protein function: Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells. {ECO:00002
• PDB: 1ZLG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17869	Cys_box	44 → 125	Anosmin cysteine rich domain	Domain
  PF00095	WAP	130 → 175		Domain
  PF00041	fn3	185 → 275	Fibronectin type III domain	Domain
  PF00041	fn3	291 → 384	Fibronectin type III domain	Domain
  PF00041	fn3	549 → 646	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the cerebellum (at protein level). {ECO:0000269|PubMed:12007408}.
• Sequence:

  MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITR
  ISAFFQHFQNNGSLVWCQNHKQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSC
  EFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGVKKCCSNGCGHTCQVPKTLYK
  GVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTV
  AQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLAN
  STVNSDGSVTVTIVWDLPEEPDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVI
  LEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHATNNKEQLVKTRKGGIQTQLPF
  QRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSG
  MTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLGEA
  GHVLSKVLAKPENLSASFIVQDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNS
  LPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQVLTPGGEGPATIKTFRTPELPPSSA
  HRSHLKHRHPHHYKPSPERY

• Sequence length: 680

Pathways

Reactome:

FGFR1c ligand binding and activation
Negative regulation of FGFR1 signaling

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
ANOS1-related disorder	Pathogenic	rs606231409	RCV003398752	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed puberty	Likely pathogenic; Pathogenic	rs727505374	RCV000156964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs1601946139	RCV004584144	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 1 with or without anosmia	Pathogenic; Likely pathogenic	rs2146817170, rs2146785767, rs2146919339, rs2146817108, rs1930491968, rs2146796828, rs2146786648, rs371599938, rs2146919105, rs2146786666, rs2146919128, rs2146785809, rs606231409, rs2146819334, rs2146846673, rs727505374, rs2518467155, rs2518468186, rs2518492977, rs387906427, rs2518492806, rs137852512, rs137852513, rs137852514, rs2146817110, rs137852515, rs2146819139, rs2146919315, rs137852516, rs886039395, rs2518492759, rs2518469618, rs2518482190, rs2518492991, rs2518440963, rs1601946139, rs1057519418, rs1057520209, rs1057520210, rs932845258, rs1555904591, rs747010865, rs1555893221, rs1602050730, rs1601965037, rs1601988004, rs1404298787, rs397518425, rs1929603954, rs1932981715	RCV001644992 RCV001381698 RCV001542632 RCV001837168 RCV001949184 RCV002037711 RCV002044489 RCV001909807 RCV001993312 RCV001876744 RCV001875552 RCV001951487 RCV000128830 RCV001965071 RCV002024816 RCV001850175 RCV002819904 RCV002834770 RCV002811813 RCV002949153 RCV003046228 RCV000010686 RCV000010687 RCV000010688 RCV000010689 RCV000010691 RCV000010692 RCV000010693 RCV000010694 RCV000010698 RCV001260298 RCV003510544 RCV003510314 RCV003510185 RCV003510958 RCV003623341 RCV003984919 RCV000416541 RCV000445562 RCV000445556 RCV000496168 RCV000501949 RCV003509556 RCV000527090 RCV000639015 RCV000761284 RCV000815592 RCV001004065 RCV001004068 RCV005414334 RCV000074341 RCV001253077 RCV001253001	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadotropic hypogonadism 7 with or without anosmia	Likely pathogenic; Pathogenic	rs727505374	RCV000156963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Martsolf syndrome 1	Pathogenic	rs886039395	RCV002305475	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amenorrhea	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micropenis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	10670750	Associate	★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	21247312	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	36039580	Associate	★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy of testis	Testicular atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30392976	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24189182		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	24189182		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	18160472, 23643382, 26720605, 28122887, 29202173		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19844165		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17143621, 28854193		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28854193	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	10076881, 11044805, 17603054, 8504298		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	10076881, 11044805, 17603054		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anosmia	Congenital anosmia	Pubtator	29255181	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	2479409		★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	28122887		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	10527669, 10727999, 12536356		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	28122887		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	18160472		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	23721716, 36039580	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	16227101		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	16876430		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	20219326		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	15324302		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	35432193	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10340754, 11390716, 15471890, 1913827, 1922361, 25300141, 7820942		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	BEFREE	25339597		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	25339597	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	20219326		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	38437850	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	23418513	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	12901795	Associate	★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24189182		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24189182		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	23721716	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	40508017	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	1619366	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	1619366	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	21288827	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	21288827	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	LHGDN	18463157		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	18985070, 21300340, 21717404, 23341491, 25339597, 30098700, 31996231, 32982993, 34348883, 35574646, 35669683, 36039580, 36268624, 38437850, 40508017	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	3101500, 7677154		★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	16882753		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	10599708, 10714361, 10727999, 16423815, 17213338, 17223984, 21717404, 25300351		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypopituitarism	Hypopituitarism	BEFREE	26375424		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	BEFREE	28122887		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	17603054	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	18194880, 25597551, 28253503		★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	11079449, 11297579, 15004876, 15722618, 16606836, 16882753, 17594608, 18463157, 18834967, 21700882, 22035731, 22499222, 24002956, 25226293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	16500342, 18463157, 19829004, 20382682, 21247312, 24002956, 25226293, 33775534, 35090434	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17409435, 25672400		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	21168128	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21288827, 25339597	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	9727739		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	17071588	Inhibit	★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	12561059, 16227101		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	10210557, 10325262, 10443071, 10527669, 10585565, 10670750, 10714361, 10727999, 10944855, 11044805, 11079449, 11124862, 11297579, 11420131, 11456260, 11531922, 11983919, 12050219, 12727945, 12773801, 15004876, 15324302, 15471890, 15636431, 15722618, 16042321, 16286771, 16423815, 16470742, 16606836, 16764984, 16876430, 17186267, 17191030, 17213338, 17223984, 17322486, 17603054, 18034870, 18259106, 18285834, 19021638, 19214032, 19707180, 20117945, 20219326, 20389085, 20389086, 20530987, 20536592, 20874775, 21042300, 21168128, 22319038, 22399515, 23189990, 23410897, 23721716, 24189182, 24232061, 24375670, 24776628, 25227403, 25339597, 25597551, 26051373, 26278626, 26375424, 28253503, 29202173, 29211946, 29255181, 29277616, 29441621, 3101500, 31199027, 31669640, 7545624, 7590336, 7677154, 8473391, 9255219, 9554756, 9589672, 9730987, 9787096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	10340754, 10670750, 11456260, 16606836, 17603054, 18463157, 18723471, 18834967, 18985070, 21042300, 21168128, 21247312, 21300340, 21682876, 21717404, 22031817, 23091330, 23410897, 23533228, 23721716, 24776628, 25339597, 26051373, 29211946, 29255181, 33120852, 36859276	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	GENOMICS_ENGLAND_DG	11531922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	LHGDN	12050219, 15001591, 17603054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	21168128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	UNIPROT_DG	11297579, 15001591, 15471890, 15605412, 17054399, 17213338, 17223984, 19696444, 20530987, 21168128, 23643382, 25077900, 8504298, 8989261, 9589672		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	CLINVAR_DG	15605412, 23643382, 23849776, 26708526, 26862482, 28295047, 8504298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	BEFREE	25892360, 31199027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	GENOMICS_ENGLAND_DG	26278626, 9719154		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	CLINVAR_DG	23533228		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kallmann syndrome, type 3, recessive	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	24522099, 26051373		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33120852	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	25060050		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25892360		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	25060050		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26270236, 31377880		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19844165, 24189182, 26270236, 28280367, 29654211		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19844165		★☆☆☆☆ Found in Text Mining only
Malrotation of kidney	Malrotation Of Kidney	BEFREE	10210557		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	9554756		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	9727739		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	9727739		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	BEFREE	11456260, 17603054		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10340754, 11390716, 15471890, 1913827, 1922361, 25300141, 7820942		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17823926, 22445357, 2479409, 27430430, 28280367, 29654211, 31413916, 31693515		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	3347492	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17143621, 24189182, 28073847, 31693515		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Normosmic congenital hypogonadotropic hypogonadism	Normosmic Congenital Hypogonadotropic Hypogonadism	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11531922, 12536356		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	9215688		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	22319038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	25597551, 28253503		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	2479409		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	23410897	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	10076881, 11044805, 17603054, 8504298		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	8100822		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10050964		★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	22319038, 26375424		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	25339597		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25060050		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	18194880		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26270236, 31377880		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37036489	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32785988	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	26051373	Associate	★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	15636431		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	10076881, 10210557, 15571757, 26051373		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ureteral Obstruction	Urethral obstruction	Pubtator	33120852	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	33120852	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	25339597	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	9554756		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	19214032		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	10527669, 10727999, 11079449, 12536356		★☆☆☆☆ Found in Text Mining only