| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Promyelocytic Leukemia |
Promyelocytic Leukemia |
GENOMICS_ENGLAND_DG |
26886259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoid Cystic Carcinoma |
Adenocarcinoma |
CTD_human_DG |
23685749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma |
Adenoma |
BEFREE |
25080505, 25884313 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aicardi Goutieres syndrome |
Aicardi goutieres syndrome |
Pubtator |
39871364 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anophthalmos with limb anomalies |
Anophthalmia |
Pubtator |
32193685 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia Telangiectasia |
BEFREE |
19147735 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia telangiectasia |
Pubtator |
19147735, 25032865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Awakening Epilepsy |
Epilepsy |
CTD_human_DG |
29942082 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
CTD_human_DG |
24121791 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
23717600, 29988990, 37537540 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
29988990, 37212524 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36281130 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
17243165 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
17243165 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chromosomal Instability |
Chromosomal instability |
Pubtator |
25893404 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Palate |
Cleft palate |
Pubtator |
20358602 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
19842212, 25080505, 25884313, 26637483, 27826041, 30823889, 31524239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
LHGDN |
18299561 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
26637483 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
22106055, 24874887 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital malrotation of intestine |
Congenital malrotation of intestine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital muscular hypertrophy-cerebral syndrome |
Congenital Muscular Hypertrophy-Cerebral Syndrome |
BEFREE |
16604071, 17221863, 19701948 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital muscular hypertrophy-cerebral syndrome |
Congenital Muscular Hypertrophy-Cerebral Syndrome |
GENOMICS_ENGLAND_DG |
16604071, 20358602, 26358754 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital muscular hypertrophy-cerebral syndrome |
Congenital Muscular Hypertrophy-Cerebral Syndrome |
UNIPROT_DG |
16604071, 17221863, 17273969, 18996922, 19701948, 20358602, 20635401, 24124034 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital muscular hypertrophy-cerebral syndrome |
Congenital Muscular Hypertrophy-Cerebral Syndrome |
CLINVAR_DG |
17221863, 17273969, 19701948, 25125236, 25356970, 26386245, 26633545, 30158690 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital muscular hypertrophy-cerebral syndrome |
Congenital Muscular Hypertrophy-Cerebral Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cornelia De Lange Syndrome |
Cornelia De Lange Syndrome |
LHGDN |
16604071, 17106445, 17273969, 18996922 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cornelia De Lange Syndrome |
Cornelia De Lange Syndrome |
BEFREE |
17221863, 17273969, 18996922, 19052029, 19690971, 19701948, 19842212, 20448023, 20727427, 22106055, 22140011, 22353942, 22857006, 22885700, 23106691, 23313159, 24124034, 24756084, 24874887, 25075551, 25574841, 26354354, 26358754, 26463496, 26581180, 26663098, 26752331, 27164022, 28102598, 28166369, 28548707, 29155047, 29279609, 29860495, 30125677, 30606125, 30806031, 31185419 View all (23 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cornelia de Lange syndrome |
Cornelia De Lange Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cornelia De Lange Syndrome |
Cornelia De Lange Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cornelia de Lange Syndrome 1 |
Cornelia De Lange Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Cornelia de Lange Syndrome 3 |
Cornelia De Lange Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
28629661 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
29037998 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutis marmorata |
Cutis marmorata |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| De Lange Syndrome |
De lange syndrome |
Pubtator |
17273969, 18996922, 19052029, 19701948, 20358602, 20448023, 20583156, 22241092, 22353942, 22857006, 23106691, 24403048, 24756084, 24918291, 25574841, 25652421, 25655089, 26354354, 26581180, 28166369, 28679547, 30515000, 30606125, 30614194, 32532882, 34827619, 37107610, 39682772, 39871364 View all (14 more) |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
28166369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
28895406 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| dowling-degos disease |
Dowling-Degos Disease |
BEFREE |
28166369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
16604071, 17221863, 17273969, 19842212, 20635401, 22106055, 23106691, 24896178, 25537356, 26354354, 26358754, 26386245, 26752331, 28102598, 28548707, 7757074 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphism |
Dysmorphism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyssomnias |
Dyssomnia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
26358754, 28548707, 31185419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
26358754, 26386245, 26752331, 28166369, 28548707, 29023665, 31185419 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
Pubtator |
28166369, 30977854, 37107610 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
CTD_human_DG |
29942082 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, Cryptogenic |
Epilepsy |
CTD_human_DG |
29942082 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
GENOMICS_ENGLAND_DG |
16604071, 26358754 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Epileptic encephalopathy |
Epileptic encephalopathy |
BEFREE |
26386245 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Epileptic Encephalopathy Early Infantile 3 |
Developmental and epileptic encephalopathy |
Pubtator |
36084525, 37107610 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
23754617 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
23754617 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
23638217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
26386245, 28102598 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Gonadal Dysgenesis, 45,X |
Gonadal Dysgenesis |
BEFREE |
22106055 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gross motor development delay |
Developmental delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism |
Growth Deficiency And Mental Retardation With Facial Dysmorphism |
BEFREE |
25574841 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism |
Growth Deficiency And Mental Retardation With Facial Dysmorphism |
ORPHANET_DG |
25574841 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Deficiency and Mental Retardation with Facial Dysmorphism |
Growth Deficiency And Mental Retardation With Facial Dysmorphism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
37107610 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
22965847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Holoprosencephaly |
Holoprosencephaly |
BEFREE |
31334757 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPERTRICHOSIS, CONGENITAL GENERALIZED |
HYPERTRICHOSIS |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
28102598 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic obstructive cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
28102598 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatasia |
Hypophosphatasia |
Pubtator |
39519277 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of nipple |
Hypoplasia Of Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
17273969, 26752331, 28102598 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
LHGDN |
17273969 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
17273969, 25649377, 26354354, 27159028 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intestinal Volvulus |
Intestinal Volvulus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated somatotropin deficiency |
Isolated Somatotropin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
BEFREE |
31425923 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Development Disorders |
Language development disorders |
Pubtator |
28166369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
24335498, 31896782, 32059753 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Promyelocytic Acute |
Promyelocytic leukemia |
Pubtator |
26886259 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Monocytic, Chronic |
Monocytic Leukemia |
CTD_human_DG |
23955599 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
20514443, 30246348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelomonocytic, Chronic |
Myelomonocytic Leukemia |
BEFREE |
31425923 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
29988990 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Long narrow head |
Dolichocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
21905016 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
21905016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
27667360, 30242889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
CTD_human_DG |
24121791 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
23638217, 25884313, 29988990, 30242889, 31425923 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
17243165 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
17273969 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic Prostate Carcinoma |
Metastatic Prostate Carcinoma |
BEFREE |
30242889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Microcornea |
Microcornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micromelia |
Micromelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild cognitive disorder |
Cognitive disorder |
BEFREE |
22140011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mouth Neoplasms |
Mouth neoplasm |
Pubtator |
36444596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
16604071, 17221863, 17273969, 19842212, 20635401, 22106055, 23106691, 24896178, 25537356, 26354354, 26358754, 26386245, 26752331, 28102598, 28548707, 7757074 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multicystic Dysplastic Kidney |
Multicystic renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
16604071, 17221863, 17273969, 19842212, 20635401, 22106055, 23106691, 24896178, 25537356, 26354354, 26358754, 26386245, 26752331, 28102598, 28548707, 7757074 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia |
Myeloid Leukemia |
CTD_human_DG |
23955599 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail dysplasia |
Nail dysplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck webbing |
Neck Webbing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
22515193, 25884313, 27667360, 27826041, 31524239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
CTD_human_DG |
29942082 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nijmegen Breakage Syndrome |
Nijmegen Breakage Syndrome |
BEFREE |
29769345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obsessive compulsive behavior |
Obsessive-Compulsive Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodactyly |
Oligodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phthisis bulbi |
Phthisis bulbi |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary physiologic amenorrhea |
Physiologic Amenorrhea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
27667360, 30242889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
BEFREE |
30242889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Radioulnar Synostosis |
Radioulnar Synostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
LHGDN |
16043481 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rett Syndrome |
Rett Syndrome |
BEFREE |
28548707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhizomelia |
Rhizomelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
33460400 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizures |
Seizures |
Pubtator |
28166369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Semilobar holoprosencephaly |
Semilobar Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Disorders |
Sleep Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Somatotropin deficiency |
Somatotropin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
36444596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotyped Behavior |
Stereotyped Behavior |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
37537540 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of the toes |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Talipes |
Talipes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
24461912 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
23717600, 26781859 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
23717600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Turner Syndrome |
Turner Syndrome |
BEFREE |
22106055 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Turner Syndrome |
Turner syndrome |
Pubtator |
39940742 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
BEFREE |
28102598 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Anomalies |
Uterine Anomalies |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wiedemann-Steiner syndrome |
Wiedemann-Steiner Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |