| Diseases | Genes involved |
|---|
| APC-associated polyposis conditions | APC |
| Alagille syndrome (AGS) | JAG1 NOTCH2 |
| Alagille-Watson syndrome (AWS) | JAG1 NOTCH2 |
| Albinism, Oculocutaneous Albinism type 1 (OCA1) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Alport syndrome and diffuse leiomyomatosis | COL4A3 COL4A5 COL4A6 |
| Anal atresia, sacral anomalies, presacral mass (ASP) | MNX1 |
| Ancell-Spiegler cylindromas | CYLD |
| Angio-encephalo-cutaneous syndrome | GNAQ |
| Angio-osteohypertophy syndrome | AGGF1 |
| Arteriohepatic dysplasia (AHD) | JAG1 NOTCH2 |
| Ataxia telangiectasia (A-T) | ATM |
| Ataxia-telangiectasia, variant VI | NBN RAD50 |
| Attenuated Familial Adenomatous Polyposis (AFAP) | APC |
| Autoimmune lymphoproliferative syndrome | CASP8 CASP10 CTLA4 FAS FASLG PRF1 |
| B-K mole syndrome | CDKN2A CDKN2C TP53BP1 |
| Bannayan-Riley-Ruvalcaba syndrome | PTEN |
| Bannayan-Zonana syndrome | PTEN |
| Bazex syndrome | |
| Bazex-Dupré-Christol syndrome (BDCS) | |
| Beckwith-Wiedemann syndrome | CDKN1C H19 ICR1 TGM1 IGF2 KCNQ1OT1 NSD1 ZNF215 |
| Bilateral acoustic neurinoma | NF2 |
| Bilateral acoustic neurofibromatosis | NF2 |
| Bilateral acoustic schwannomas | NF2 |
| Birt-Hogg-Dubé syndrome (BHDS) | FLCN |
| Bloom syndrome | BML |
| Bone dysplasia with malignant fibrous histiocytoma | |
| Bone dysplasia with medullary fibrosarcoma | |
| Bourneville disease | TSC1 TSC2 |
| Broad thumb hallux syndrome | CREBBP |
| Brooke-Fordyce trichoepitheliomas | CYLD |
| Brooke-Spiegler syndrome | CYLD |
| Bruton's agammaglobulinemia | BTK |
| CHS | LYST |
| Cardiocutaneous syndrome | BRAF PTPN11 RAF1 |
| Carney complex (CNC) | CNC2 PRKAR1A |
| Carney triad | |
| Carotid body tumors | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
| Cartilage-hair hypoplasia (CHH) | RMRP |
| Central neurofibromatosis | NF2 |
| Cerebral gigantism | NSD1 NFIX |
| Chediak-Higashi Syndrome | LYST |
| Chemodectomas | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
| Cholestasis with peripheral pulmonary stenosis | JAG1 NOTCH2 |
| Cockayne syndrome | ERCC6 ERCC8 |
| Congenital generalized fibromatosis | NOTCH3 PDGFRB |
| Congenital myofibromatosis | NOTCH3 PDGFRB |
| Congenital neutropenia | ELANE HAX1 |
| Costello syndrome | HRAS |
| Cowden disease | PTEN SDHB SDHD |
| Currarino syndrome | MNX1 |
| Currarino triad | MNX1 |
| De Sanctis-Cacchione Syndrome | ERCC6 ERCC2 XPA XPC |
| Denys-Drash syndrome (DDS) | WT1 |
| Diamond-Blackfan anemia (DBA) | RPL5 RPL11 RPL15 RPL26 RPL35A RPS7 RPS10 RPS17 RPS19 RPS24
RPS26 RPS28 RPS29 TSR2 |
| Dianzani autoimmune lymphoproliferative disease (DALD) | PRF1 SPP1 |
| Diaphyseal aclasis | EXT1 EXT2 |
| Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) | |
| Down syndrome | |
| Drash syndrome | WT1 |
| Dubowitz syndrome | ACTB |
| Dyschondrodysplasia with haemangiomas | |
| Dyschondroplasia | |
| Dyskeratosis congenita (DKC) | DKC1 NHP2 NOP10 PARN RTEL1 TERC TERT TINF2 WRAP53 |
| Dysplastic Nevus Syndrome (DNS) | CDK4 CDKN2A MC1R MITF POT1 TERT XRCC3 |
| Dysplastic gangliocytoma of the cerebellum | PTEN |
| Dysplastic nevus syndrome (DNS) | CDKN2A CDKN2C TP53BP1 |
| Eccrine tumours with ectodermal dysplasia. | WNT10A |
| Eczema-thrombocytopenia-immunodeficiency syndrome | WAS WIPF1 |
| Elattoproteus syndrome | HMGA2 |
| Elephant man syndrome | HMGA2 |
| Encephalocraniocutaneous lipomatosis | HMGA2 |
| Encephalotrigeminal angiomatosis | GNAQ |
| Enchondromatosis | ACP5 PTPN11 |
| Enchondromatosis with multiple cavernous haemangiomas | |
| Epidermodysplasia verruciformis | TMC6 TMC8 |
| Epiloia | TSC1 TSC2 |
| Exomphalos-macroglossia-gigantism triad | CDKN1C H19 ICR1 TGM1 IGF2 KCNQ1OT1 NSD1 ZNF215 |
| FPD/AML | RUNX1 |
| Familial /sporadic gastrointestinal stromal tumors (GISTs) | KIT PDGFRA SDHB SDHC |
| Familial Juvenile Polyposis Syndrome | BMPR1A SMAD4 |
| Familial Myeloproliferative Disorders | TERT GSKIP ATG2B RBBP6 BML BRCA2 BRIP1 CEBPA ELANE FANCA
FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HAX1 PALB2 RAD51C RUNX1 SLX4 WAS |
| Familial adenomatous polyposis (FAP) | APC |
| Familial atypical mole-malignant melanoma syndrome (FAMMM) | CDKN2A CDKN2C TP53BP1 |
| Familial atypical multiple mole melanoma syndrome (FAMMM) | CDK4 CDKN2A MC1R MITF POT1 TERT XRCC3 |
| Familial chronic lymphocytic leukaemia | |
| Familial clear cell renal cancer | DIRC1 DIRC2 DIRC3 FHIT RNF139 |
| Familial cylindromatosis | CYLD |
| Familial glioma | TERT EGFR CCDC26 CDKN2A CDKN2B PHLDB1 RTEL1 POT1 SPAG9 RUNDC1
PTEN TP53 CDK4 ETFA ZBTB16 POLR3B NF1 NF2 TSC1 TSC2 MSH2 MLH1 MSH6 PMS2 APC IDH1 IDH2 RB1 BRCA2 MYO19 KIF18B |
| Familial glomus tumors | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
| Familial hepatic adenomas | HNF1A |
| Familial infiltrative fibromatosis. | APC CTNNB1 |
| Familial leukemia or MDS associated with monosomy 7 | |
| Familial liver adenomatosis | HNF1A |
| Familial melanoma | CDK4 CDKN2A MC1R MITF POT1 TERT XRCC3 |
| Familial monosomy 7 syndrome | |
| Familial myeloproliferative neoplasms | TERT GSKIP ATG2B RBBP6 BML BRCA2 BRIP1 CEBPA ELANE FANCA
FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HAX1 PALB2 RAD51C RUNX1 SLX4 WAS |
| Familial nervous system tumour syndromes | APC CHEK2 MLH1 MHS6 MSH2 NF1 NF2 PMS2 PTCH1 PTCH2
PTEN SDHB SDHD SUFU TP53 TSC1 TSC2 VHL |
| Familial nonchromaffin paragangliomas | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
| Familial pancreatic cancer | BRCA2 CDKN2A MLH1 PALB2 PALLD PHOX2B PRSS1 STK11 TP53 |
| Familial platelet disorder with predisposition to acute myelogenous leukemia | RUNX1 |
| Familial platelet disorder with predisposition to myeloid malignancy | RUNX1 |
| Familial prostate cancer | ELAC2 MSMB MSR1 RNASEL |
| Familial tylosis | AAGAB RHBDF2 |
| Familiar breast-ovarian cancer | ATM BARD1 BRIP1 BRCA1 BRCA2 CASP8 CDH1 CHEK2 ESR1 HMMR
NQO2 PALB2 PHB PPM1D PTEN RAD51 RAD54L STK11 TP53 XRCC3 |
| Fanconi anemia | FANCA FANCB FANCC BRCA2 FANCD2 FANCE FANCF FANCG FANCI BACH1
FANCL FANCM PALB2 RAD51C SLX4 ERCC4 RAD51 BRCA1 UBE2T |
| Fanconi pancytopenia | FANCA FANCB FANCC BRCA2 FANCD2 FANCE FANCF FANCG FANCI BACH1
FANCL FANCM PALB2 RAD51C SLX4 ERCC4 RAD51 BRCA1 UBE2T |
| Ferguson-Smith disease | TGFBR1 |
| Fibrofolliculomas with Trichodiscomas and Acrochordons | FLCN |
| Fifth phacomatosis | PTCH1 PTCH2 SUFU |
| Focal non epidermolytic palmoplantar keratoderma (NEPPK) with carcinoma of the oesophagus | AAGAB RHBDF2 |
| Follicular atrophoderma and basal cell carcinomas | |
| Frasier syndrome (FS) | WT1 |
| Gardner syndrome | APC |
| Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) | APC |
| Generalized lentiginosis | BRAF PTPN11 RAF1 |
| Gigantism | HMGA2 |
| Glomangioma | GLMN |
| Glomus jugulare tumors | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
| Glomuvenous malformation (GVM) | GLMN |
| Glycogen storage disease type I (GSD I) | AGL G6PC GAA GBE1 GYS1 GYS2 PFKM PHKA2 PHKB PHKG2
PYGL PYGM SLC37A4 |
| Gorlin syndrome | PTCH1 PTCH2 SUFU |
| Gorlin syndrome (not to be confused with the Gorlin-Goltz/naevoid basal cell carcinoma syndrome) | RET |
| Gorlin-Goltz syndrome | PTCH1 PTCH2 SUFU |
| Haemangiomatosis chondrodystrophica | |
| Hamartomatous Intestinal Polyposis | STK11 |
| Hemangiopericytoma | NOTCH3 PDGFRB |
| Hemihyperplasia isolated | |
| Hepatic ductular paucity, syndromatic | JAG1 NOTCH2 |
| Hereditary Non-polyposis Colorectal Cancer, HNPCC | EPCAM MLH1 MSH2 MSH6 PMS2 |
| Hereditary bone dysplasia with malignant change | |
| Hereditary breast cancer | ATM BARD1 BRIP1 BRCA1 BRCA2 CASP8 CDH1 CHEK2 ESR1 HMMR
NQO2 PALB2 PHB PPM1D PTEN RAD51 RAD54L STK11 TP53 XRCC3 |
| Hereditary desmoid disease. | APC CTNNB1 |
| Hereditary diffuse gastric cancer (HDGC) | |
| Hereditary erythrocytosis | TERT GSKIP ATG2B RBBP6 BML BRCA2 BRIP1 CEBPA ELANE FANCA
FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HAX1 PALB2 RAD51C RUNX1 SLX4 WAS |
| Hereditary leiomyomatosis and renal cell cancer (HLRCC) | FH |
| Hereditary multiple cutaneous leiomyomatosis | FH |
| Hereditary multiple exostosis (HME) | EXT1 EXT2 |
| Hereditary pancreatic cancer | BRCA2 CDKN2A MLH1 PALB2 PALLD PHOX2B PRSS1 STK11 TP53 |
| Hereditary papillary renal cell carcinoma | MET |
| Hereditary paraganglioma (PGL) | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
| Hereditary prostate cancer | ELAC2 MSMB MSR1 RNASEL |
| Hereditary thrombocytosis | TERT GSKIP ATG2B RBBP6 BML BRCA2 BRIP1 CEBPA ELANE FANCA
FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HAX1 PALB2 RAD51C RUNX1 SLX4 WAS |
| Hirschsprung disease with pigmentary anomaly (WS4) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
| Holoprosencephaly-diencephalic hamartoblastoma (HDH). | SHH SOX2 |
| Holoprosencephaly-diencephalic hamartoblastoma association, Holoprosencephaly-hypothalamic hamartoblastoma, Holoprosencephaly-diencephalic hamartoma | SHH SOX2 |
| Hornstein-Knickenberg Syndrome | FLCN |
| Howell-Evans syndromes | AAGAB RHBDF2 |
| Hoyeraal Hreidarsson syndrome | DKC1 NHP2 NOP10 PARN RTEL1 TERC TERT TINF2 WRAP53 |
| Hydrocephalus, costovertebral dysplasia, sprengel anomaly | PTCH1 PTCH2 SUFU |
| Hyperparathyroidism-Jaw tumor syndrome (HPT-JT) | CDC73 |
| Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature syndrome (IBIDS) | ERCC2 ERCC3 GTF2H5 MPLKIP |
| Immunodeficiency, microcephaly, chromosomal instability | NBN RAD50 |
| Infantile myofibromatosis | NOTCH3 PDGFRB |
| Isolated hemihypertrophy | |
| JPS | BMPR1A SMAD4 |
| Kast syndrome | |
| Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis. | WNT10A |
| Klein-Waardenburg syndrome (WS3) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
| Klippel Trenaunay syndrome | AGGF1 |
| Kostmann syndrome | ELANE HAX1 |
| LEOPARD syndrome | BRAF PTPN11 RAF1 |
| Levandowsky-Lutz syndrome | TMC6 TMC8 |
| Lhermitte-Duclos disease | PTEN |
| Li-Fraumeni syndrome | CDKN2A CHEK2 PTEN TP53 |
| Louis-Bar syndrome | ATM |
| Lynch Syndrome | EPCAM MLH1 MSH2 MSH6 PMS2 |
| MUTYH associated polyposis | MUTYH |
| MUTYH-Associated Polyposis (MAP) | MUTYH |
| MVA | BUB1B CEP57 |
| MYH associated polyposis | MUTYH |
| Macrocephaly, multiple lipomas, hemangiomata | PTEN |
| Macrocephaly, pseudopapilledema, multiple hemangiomata | PTEN |
| Maffucci syndrome | |
| Male Turner syndrome | BRAF KRAS NRAS PTPN11 RAF1 RIT1 SOS1 |
| Malignant tumors of the central nervous system associated with familial polyposis of the colon | APC MLH1 MHS6 MSH2 PMS2 |
| McCune Albright syndrome | GNAS |
| Melanoma and neural system tumour syndrome | CDKN2A |
| Melanoma-Astrocytoma syndrome | CDKN2A |
| Mesenchymal hamartomatosis | NOTCH3 PDGFRB |
| Metaphyseal chondrodysplasia, McKusick type | RMRP |
| Microcephaly with normal intelligence, immunodeficiency, lymphoreticular malignancies | NBN RAD50 |
| Mosaic variegated aneuploidy syndrome | BUB1B CEP57 |
| Mulibrey nanism | TRIM37 |
| Multiple angiomas and endochondromas | |
| Multiple basal cell nevi, odontogenic keratocysts, skeletal anomalies | PTCH1 PTCH2 SUFU |
| Multiple cartilaginous enchondroses | |
| Multiple cartlaginous exostoses | EXT1 EXT2 |
| Multiple chondromatosis | ACP5 PTPN11 |
| Multiple cutaneous and uterine leiomyomatosis (MCUL) | FH |
| Multiple enchondromatosis | ACP5 PTPN11 |
| Multiple enchondromatosis | |
| Multiple endocrine neoplasia type 1 (MEN1) | MEN1 |
| Multiple endocrine neoplasia type 2 (MEN2) | RET |
| Multiple familial trichoepitheliomas | CYLD |
| Multiple glomus tumor | GLMN |
| Multiple hamartoma syndrome | PTEN SDHB SDHD |
| Multiple hereditary exostoses (MHE) | EXT1 EXT2 |
| Multiple hereditary osteochondromatosis | EXT1 EXT2 |
| Multiple osteochondromas (MO) | EXT1 EXT2 |
| Multiple self-healing squamous epithelioma | TGFBR1 |
| Multiple-lentigines syndrome | BRAF PTPN11 RAF1 |
| Muscle-liver-brain-eye nanism | TRIM37 |
| Naevoid basal cell carcinoma syndrome (NBCS) | PTCH1 PTCH2 SUFU |
| Nephropathy, Wilms tumor, and genital anomalies | WT1 |
| Neurofibromatosis type 1 (NF1) | NF1 |
| Neurofibromatosis type 2 (NF2) | NF2 |
| Nijmegen breakage syndrome | NBN RAD50 |
| Noonan syndrome | BRAF KRAS NRAS PTPN11 RAF1 RIT1 SOS1 |
| Noonan-like syndrome with nasal papillomata | HRAS |
| Oculocutaneous Albinism | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Oculocutaneous Albinism type 2 (OCA2) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Oculocutaneous Albinism type 3 (OCA3) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Oculocutaneous Albinism type 4 (OCA4) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Oculocutaneous Albinism type 5 (OCA5) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Oculocutaneous Albinism type 6 (OCA6) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Oculocutaneous Albinism type 7 (OCA7) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Ollier disease | |
| Paget's disease of bone | SQSTM1 |
| Pallister Hall syndrome (PHS) | GLI3 |
| Perheentupa syndrome | TRIM37 |
| Pericardial constriction and growth failure | TRIM37 |
| Peripheral neurofibromatosis | NF1 |
| Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism) | DIS3L2 |
| Peutz-Jeghers syndrome | STK11 |
| Piebaldism | KIT KITLG SNAI2 |
| Poikiloderma atrophicans and cataract | RECQL4 |
| Polyps-and-Spots Syndrome | STK11 |
| Porokeratosis of Mibelli | -- |
| Prader Willi syndrome | NDN SNRPN |
| Progressive cardiomyopathic lentiginosis | BRAF PTPN11 RAF1 |
| Proteus syndrome | HMGA2 |
| Pseudo-Turner syndrome | BRAF KRAS NRAS PTPN11 RAF1 RIT1 SOS1 |
| Retinoblastoma (hereditary predisposition) | RB1 |
| Rhabdoid predisposition syndrome | SMARCA4 SMARCB1 |
| Riley-Smith syndrome | PTEN |
| Rombo syndrome | |
| Rothmund-Thomson syndrome (RTS) | RECQL4 |
| Rubinstein-Taybi syndrome (RTS) | CREBBP |
| Ruvalcaba-Myhre-Smith syndrome | PTEN |
| Sacral defect with anterior meningocoele | MNX1 |
| Schöpf-Schulz-Passarge syndrome (SSPS) | WNT10A |
| Schinzel-Giedion midface retraction syndrome | SETBP1 |
| Schinzel-Giedion syndrome | SETBP1 |
| Schwannomatosis | SMARCB1 |
| Seemanova syndrome II | NBN RAD50 |
| Severe chronic neutropenia (SCN) | ELANE HAX1 |
| Shan-Waardenburg syndrome (WS4) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
| Shwachman-Diamond syndrome (SDS) | SBDS |
| Signet ring carcinoma or isolated cell type carcinoma. | |
| Silver Russell syndrome | |
| Simpson-Golabi-Behmel syndrome | GPC3 OFD1 |
| Sipple syndrome | RET |
| Site-specific breast cancer | ATM BARD1 BRIP1 BRCA1 BRCA2 CASP8 CDH1 CHEK2 ESR1 HMMR
NQO2 PALB2 PHB PPM1D PTEN RAD51 RAD54L STK11 TP53 XRCC3 |
| Sotos syndrome (SOS) | NSD1 NFIX |
| Stiff-man syndrome | AMPH GAD2 GPHN |
| Stiff-person syndrome | AMPH GAD2 GPHN |
| Sturge Weber syndrome | GNAQ |
| Trichothiodystrophy (TTD) | ERCC2 ERCC3 GTF2H5 MPLKIP |
| Trisomy 21 | |
| Tuberous sclerosis (TSC) | TSC1 TSC2 |
| Turban tumor syndrome | CYLD |
| Turcot syndrome | APC MLH1 MHS6 MSH2 PMS2 |
| Tylosis oesophageal cancer | AAGAB RHBDF2 |
| Tyrosinase-Negative Albinism | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Tyrosinase-Positive Albinism | TYR OCA2 TYRP1 SLC45A2 SLC24A5 LRMDA |
| Variegated aneuploidy related to premature centromere division (PCD) | BUB1B CEP57 |
| Vascular leiomyoma of the newborn | NOTCH3 PDGFRB |
| Von Hippel-Lindau | VHL CCND1 |
| Von Recklinghausen neurofibromatosis | NF1 |
| WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome) | PAX6 WT1 |
| Waardenburg syndrome (WS) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
| Waardenburg syndrome variant (WS4) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
| Waardenburg syndrome with upper limb anomalies (WS3) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
| Waardenburg-Hirschsprung disease (WS4) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
| Weaver syndrome | EED EZH2 NSD |
| Wermer's syndrome | MEN1 |
| Werner syndrome | WRN |
| White forelock with malformations (WS3) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
| Wilms tumor and pseudo- or true hermaphroditism | WT1 |
| Wiskott-Aldrich Syndrome (WAS) | WAS WIPF1 |
| X-linked agammaglobulinemia (XLA) | BTK |
| X-linked lymphoproliferative disease (XLP) | SH2D1A XIAP |
| X-linked thrombocytopenia (THC1/XLT) | WAS |
| Xeroderma pigmentosum | XPA XPB XPC XPE XPF XPG ERCC2 EERCC3 ERCC4 ERCC5
POLH |
| Zinsser Cole Engeman syndrome | DKC1 NHP2 NOP10 PARN RTEL1 TERC TERT TINF2 WRAP53 |
| osteitis deformans | SQSTM1 |
| venous malformation with glomus cells (VMGLOM) | GLMN |
| von Gierke disease | AGL G6PC GAA GBE1 GYS1 GYS2 PFKM PHKA2 PHKB PHKG2
PYGL PYGM SLC37A4 |
